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Discovery / research surface

Dog10K variants at human disease positions.

Each row is a Dog10K variant sitting at a position tied to human disease, ranked by a transparent evidence stack. Built for researchers, and built to refuse.

These are candidate positions, not demonstrated models. The evidence here supports where a variant sits and how strong the signal is, it does not show the dog gets the disease. For nearly every row that is one allele in one dog with no observed phenotype, so the model claim would over-reach; the phenotype hop lives outside this graph, in the wet lab. Position-mapping alone never surfaces a candidate; the bridge is always the ortholog, never sequence similarity; a variant whose mechanism it cannot model (a repeat expansion, a large deletion) is flagged and demoted, never a lead.

Looking for one gene, variant, or position? Use the variant lookup → It answers cleared, abstained (with the reason), or not in the disease-gene set.

The funnel

The narrowing is the honest story. Most variants map to a human position and prove nothing by it; what clears the whole stack is what we surface.

10,519,010
Variants in disease genes
127,639
Cleared the stack
10,391,371
Abstained (position-only)
120
Shown here (top per tier)

Calibration: OMIA gold 25/25 recovered; SOD1/DM at 83.5th pct of Tier-2. Evo2 functional AUC 0.832 (SNV, top candidates only).

Known models recovered

calibration · 1 recovered

The pipeline independently re-found these established canine disease models, positive controls. That it recovers the known answers is the evidence you can trust it on the novel leads below. This is the proof, not the output.

VWF → VWF

tier #1 · known model

human disease: von Willebrand disease 2, von Willebrand disease type 2A, von Willebrand disease type 2B, von Willebrand disease type 2M, +5 more

ortholog: one2one (high-corroborated) · conserved (phyloP 8.83) · ClinVar 3★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

7 variants in this gene · best: chr27:7167997 G>A · candidate, not confirmed

Novel leads · Tier 1, expert-review anchor

New candidates whose human disease link is ClinVar 3-star, expert-panel reviewed. High-confidence anchors.

APC → APC

tier #4

human disease: familial adenomatous polyposis 1, colon carcinoma, hepatocellular carcinoma, gastric neoplasm, +6 more

ortholog: one2one (high-corroborated) · conserved (phyloP 8.80) · ClinVar 3★ · gnomAD constrained · Evo 2 damaging · 3/3974 dogs

11 variants in this gene · best: chr3:255301 G>A · candidate, not confirmed

SCN3A → SCN3A

tier #7

human disease: polymicrogyria, developmental and epileptic encephalopathy

ortholog: one2one (high-corroborated) · conserved (phyloP 8.77) · ClinVar 3★ · gnomAD constrained · Evo 2 damaging · 6/3974 dogs

3 variants in this gene · best: chr36:10641792 G>A · candidate, not confirmed

GATM → GATM

tier #17

human disease: AGAT deficiency, Fanconi renotubular syndrome 1

ortholog: one2one (high-corroborated) · conserved (phyloP 8.90) · ClinVar 3★ · gnomAD constrained · Evo 2 damaging · 7/3974 dogs

1 variant in this gene · best: chr30:12010476 C>T · candidate, not confirmed

FBN1 → FBN1

tier #18

human disease: Marfan syndrome, familial thoracic aortic aneurysm and aortic dissection

ortholog: one2one (high-corroborated) · conserved (phyloP 8.79) · ClinVar 3★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

4 variants in this gene · best: chr30:14938981 G>A · candidate, not confirmed

BMPR2 → BMPR2

tier #31

human disease: pulmonary hypertension, primary, 1, pulmonary arterial hypertension, pulmonary venoocclusive disease 1

ortholog: one2one (high-corroborated) · conserved (phyloP 8.90) · ClinVar 3★ · gnomAD constrained · Evo 2 damaging · 2/3974 dogs

1 variant in this gene · best: chr37:11387725 C>A · candidate, not confirmed

PTEN → PTEN

tier #46

human disease: PTEN hamartoma tumor syndrome, Cowden syndrome 1, macrocephaly-autism syndrome, familial meningioma, +10 more

ortholog: one2one (high) · conserved (phyloP 8.90) · ClinVar 3★ · gnomAD constrained · Evo 2 damaging · 26/3974 dogs

1 variant in this gene · best: chr26:38195804 C>T · candidate, not confirmed

BRAF → BRAF

tier #47

human disease: cardiofaciocutaneous syndrome, Noonan syndrome, cardiofaciocutaneous syndrome 1, Noonan syndrome 7, +6 more

ortholog: one2one (high-corroborated) · conserved (phyloP 8.61) · ClinVar 3★ · gnomAD constrained · no functional score · 2/3974 dogs

⚠ Mechanism caution: mechanism_specific_gof, a snp may only partially model it. Weigh accordingly.

1 variant in this gene · best: chr16:8084854 G>A · candidate, not confirmed

MTOR → MTOR

tier #48

human disease: isolated focal cortical dysplasia type II, overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, hemimegalencephaly, CEBALID syndrome

ortholog: one2one (high-corroborated) · conserved (phyloP 8.90) · ClinVar 3★ · gnomAD constrained · no functional score · 1/3974 dogs

⚠ Mechanism caution: somatic_mosaic, a snp may only partially model it. Weigh accordingly.

7 variants in this gene · best: chr2:84321538 C>G · candidate, not confirmed

RAF1 → RAF1

tier #55

human disease: Noonan syndrome, Noonan syndrome 5, Noonan syndrome with multiple lentigines, LEOPARD syndrome 2, +2 more

ortholog: one2one (high-corroborated) · conserved (phyloP 8.90) · ClinVar 3★ · gnomAD constrained · no functional score · 1/3974 dogs

⚠ Mechanism caution: mechanism_specific_gof, a snp may only partially model it. Weigh accordingly.

1 variant in this gene · best: chr20:6040929 C>T · candidate, not confirmed

Novel leads · Tier 2, below the expert bar

New candidates whose human P/LP signal is below expert-review confidence. Discovery tier, ranked strictly below Tier 1.

BCLAF1 → BCLAF1

tier #1

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.78) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 3/3974 dogs

2 variants in this gene · best: chr1:29097709 G>T · candidate, not confirmed

TNFAIP3 → TNFAIP3

tier #2

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.78) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

2 variants in this gene · best: chr1:30497841 G>A · candidate, not confirmed

HIVEP2 → HIVEP2

tier #3

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.80) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

4 variants in this gene · best: chr1:34613306 G>T · candidate, not confirmed

SASH1 → SASH1

tier #7

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.90) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

2 variants in this gene · best: chr1:39659010 C>T · candidate, not confirmed

SYNE1 → SYNE1

tier #9

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.89) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

17 variants in this gene · best: chr1:42848862 C>T · candidate, not confirmed

TNPO3 → TNPO3

tier #13

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.79) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 129/3974 dogs

2 variants in this gene · best: chr14:7571819 C>T · candidate, not confirmed

SNRNP200 → SNRNP200

tier #14

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.89) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 2/3974 dogs

4 variants in this gene · best: chr17:34651886 C>T · candidate, not confirmed

PPTC7 → PPTC7

tier #16

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.76) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

1 variant in this gene · best: chr26:8584053 G>A · candidate, not confirmed

EMX2 → EMX2

tier #17

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.62) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 1/3964 dogs

3 variants in this gene · best: chr28:28304114 C>A · candidate, not confirmed

SMAD3 → SMAD3

tier #19

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.77) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 2/3974 dogs

2 variants in this gene · best: chr30:31770530 C>T · candidate, not confirmed

CDC73 → CDC73

tier #20

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.87) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 4/3974 dogs

2 variants in this gene · best: chr38:6445504 C>G · candidate, not confirmed

KLHL20 → KLHL20

tier #21

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.90) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 3/3974 dogs

1 variant in this gene · best: chr7:25344355 C>T · candidate, not confirmed

TPM3 → TPM3

tier #22

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.88) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 115/3974 dogs

1 variant in this gene · best: chr7:43039783 C>T · candidate, not confirmed

LMX1B → LMX1B

tier #23

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.89) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 5/3974 dogs

1 variant in this gene · best: chr9:56636729 C>T · candidate, not confirmed

NEDD4L → NEDD4L

tier #24

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.80) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 3/3974 dogs

1 variant in this gene · best: chr1:17780737 G>A · candidate, not confirmed

EYA4 → EYA4

tier #25

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.90) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

1 variant in this gene · best: chr1:26605210 C>A · candidate, not confirmed

GRM1 → GRM1

tier #28

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.73) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 118/3974 dogs

1 variant in this gene · best: chr1:37570756 C>A · candidate, not confirmed

MAP3K7 → MAP3K7

tier #37

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.90) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 13/3968 dogs

1 variant in this gene · best: chr12:49896912 C>T · candidate, not confirmed

GRIA2 → GRIA2

tier #39

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.90) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

1 variant in this gene · best: chr15:55054984 C>T · candidate, not confirmed

RUVBL1 → RUVBL1

tier #41

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.90) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 4/3974 dogs

3 variants in this gene · best: chr20:2125307 C>T · candidate, not confirmed

EED → EED

tier #44

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.80) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

1 variant in this gene · best: chr21:13358594 G>A · candidate, not confirmed

SMARCD1 → SMARCD1

tier #45

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.76) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

1 variant in this gene · best: chr27:42020592 C>T · candidate, not confirmed

RAB11A → RAB11A

tier #47

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.55) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 2/3974 dogs

1 variant in this gene · best: chr30:30631352 G>T · candidate, not confirmed

STX1B → STX1B

tier #50

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.81) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

1 variant in this gene · best: chr6:17378428 C>T · candidate, not confirmed

NFIA → NFIA

tier #51

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high) · conserved (phyloP 8.90) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

1 variant in this gene · best: chr5:48941121 C>T · candidate, not confirmed

ZNF407 → ZNF407

tier #52

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.51) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 3/3974 dogs

1 variant in this gene · best: chr1:4397298 C>T · candidate, not confirmed

VPS4B → VPS4B

tier #53

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.72) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 6/3974 dogs

1 variant in this gene · best: chr1:13727723 G>C · candidate, not confirmed

ATP8B1 → ATP8B1

tier #54

human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)

ortholog: one2one (high-corroborated) · conserved (phyloP 8.88) · ClinVar 0★ · gnomAD constrained · Evo 2 damaging · 4/3974 dogs

1 variant in this gene · best: chr1:18347402 C>T · candidate, not confirmed

Structural-variant candidates

Dog10K germline SV · human disease position

A germline structural variant, a deletion, duplication, or insertion, overlapping a position where the gene's human ortholog carries a cited disease variant. A larger lesion than a single-letter change, so its mechanism reach differs. A variant common across Dog10K is a polymorphism, not a rare-disease model, so its allele frequency is on every row and a common SV is flagged and demoted.

142,645
Germline SVs
2,109
At a disease position
565
Cleared the stack
565
Surfaced

SV leads · Tier 1, expert-review anchor

The human disease link is ClinVar 3-star, expert-panel reviewed.

MLH1 → MLH1

tier #1

human disease: colon carcinoma

DEL chr23:7,175,001-7,175,439 rare, AF <1%
conserved (phyloP 8.80) · ClinVar 3★ P/LP · exonic overlap

a DEL can realize loss-of-function / dosage change at this locus · 16 SVs in this gene · candidate, not confirmed

MSH2 → MSH2

tier #17

human disease: Lynch syndrome

DEL chr10:50,637,969-50,641,418 rare, AF <1%
conserved (phyloP 8.80) · ClinVar 3★ P/LP · exonic overlap

a DEL can realize loss-of-function / dosage change at this locus · 72 SVs in this gene · candidate, not confirmed

COCH → COCH

tier #65

human disease: autosomal dominant nonsyndromic hearing loss 9

DEL chr8:10,368,555-10,368,718 rare, AF <1%
conserved (phyloP 4.39) · ClinVar 3★ P/LP · exonic overlap

a DEL can realize loss-of-function / dosage change at this locus · 1 SV in this gene · candidate, not confirmed

GCK → GCK

tier #66

human disease: diabetes mellitus

DEL chr16:14,349,373-14,349,814 rare, AF <1%
· ClinVar 3★ P/LP · exonic overlap

a DEL can realize loss-of-function / dosage change at this locus · 9 SVs in this gene · candidate, not confirmed

DVL2 → DVL2

tier #87

human disease: very long chain acyl-CoA dehydrogenase deficiency

DEL chr5:32,401,505-32,401,555 rare, AF <1%
conserved (phyloP 6.33) · ClinVar 3★ P/LP · exonic overlap

a DEL can realize loss-of-function / dosage change at this locus · 1 SV in this gene · candidate, not confirmed

F8 → F8

tier #90

human disease: hemophilia A

DEL chrX:124,095,277-124,428,368 rare, AF <1%
conserved (phyloP 7.76) · ClinVar 3★ P/LP · exonic overlap

a DEL can realize loss-of-function / dosage change at this locus · 3 SVs in this gene · candidate, not confirmed

QTRT1 → DNM2

tier #111

human disease: autosomal dominant centronuclear myopathy

DUP chr20:50,894,187-50,905,539 rare, AF <1%
conserved (phyloP 8.90) · ClinVar 3★ P/LP · exonic overlap

a DUP can realize loss-of-function / dosage change at this locus · 5 SVs in this gene · candidate, not confirmed

OTOF → OTOF

tier #116

human disease: autosomal recessive nonsyndromic hearing loss 9

DUP chr17:20,654,928-20,720,210 rare, AF <1%
conserved (phyloP 8.90) · ClinVar 3★ P/LP · exonic overlap

a DUP can realize loss-of-function / dosage change at this locus · 2 SVs in this gene · candidate, not confirmed

USH2A → USH2A

tier #118

human disease: Usher syndrome type 2A

DEL chr38:11,750,784-11,753,966 rare, AF 1%
conserved (phyloP 8.63) · ClinVar 3★ P/LP · exonic overlap

a DEL can realize loss-of-function / dosage change at this locus · 5 SVs in this gene · candidate, not confirmed

CYP1B1 → CYP1B1

tier #123

human disease: primary congenital glaucoma

INV chr17:30,336,526-31,081,478 rare, AF 1%
conserved (phyloP 8.90) · ClinVar 3★ P/LP · exonic overlap

a INV can realize loss-of-function / dosage change at this locus · 8 SVs in this gene · candidate, not confirmed

RRAS2 → RRAS2

tier #131

human disease: noonan syndrome 12

DEL chr21:37,645,831-37,648,011 rare, AF 3%
conserved (phyloP 6.33) · ClinVar 3★ P/LP · exonic overlap

a DEL can realize loss-of-function / dosage change at this locus · 1 SV in this gene · candidate, not confirmed

NRAS → NRAS

tier #132

human disease: juvenile myelomonocytic leukemia

DEL chr17:52,940,605-52,942,768 rare, AF <1%
conserved (phyloP 8.78) · ClinVar 3★ P/LP · exonic overlap

✗ Mechanism mismatch: activating_missense_gof, which a DEL cannot realize. Flagged, demoted below all compatible candidates.

PPP1CB → PPP1CB

tier #147

human disease: Noonan syndrome-like disorder with loose anagen hair 2

DEL chr17:22,714,209-22,716,079 rare, AF <1%
conserved (phyloP 8.79) · ClinVar 3★ P/LP · exonic overlap

✗ Mechanism mismatch: activating_missense_gof, which a DEL cannot realize. Flagged, demoted below all compatible candidates.

CDH23 → CDH23

tier #149

human disease: Usher syndrome type 1D

DEL chr4:23,235,181-23,235,387 common in Dog10K, AF 24% (a polymorphism, not a rare-disease signal)
· ClinVar 3★ P/LP · exonic overlap

a DEL can realize loss-of-function / dosage change at this locus · 4 SVs in this gene · candidate, not confirmed

SV leads · Tier 2, below the expert bar

The human P/LP signal is below expert-review confidence. Ranked strictly below Tier 1.

SGCD → SGCD

tier #1

human disease: autosomal recessive limb-girdle muscular dystrophy type 2F

DEL chr4:54,703,229-54,718,604 rare, AF <1%
conserved (phyloP 8.87) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 18 SVs in this gene · candidate, not confirmed

CAPN3 → CAPN3

tier #3

human disease: myopathy

DEL chr30:9,643,357-9,643,470 rare, AF <1%
conserved (phyloP 8.46) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 7 SVs in this gene · candidate, not confirmed

USH2A → USH2A

tier #10

human disease: Usher syndrome type 2A

DEL chr38:12,213,862-12,220,199 rare, AF <1%
conserved (phyloP 7.02) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 50 SVs in this gene · candidate, not confirmed

DYSF → DYSF

tier #22

human disease: autosomal recessive limb-girdle muscular dystrophy type 2B

DEL chr17:51,582,822-51,587,456 rare, AF <1%
conserved (phyloP 5.71) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 10 SVs in this gene · candidate, not confirmed

RUNX1 → RUNX1

tier #27

human disease: thrombocytopenia

DEL chr31:29,931,854-29,931,914 rare, AF <1%
conserved (phyloP 5.71) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 9 SVs in this gene · candidate, not confirmed

CDH23 → CDH23

tier #36

human disease: Usher syndrome type 1D

DEL chr4:23,028,234-23,028,320 rare, AF <1%
conserved (phyloP 5.67) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 8 SVs in this gene · candidate, not confirmed

BMPR2 → BMPR2

tier #40

human disease: pulmonary arterial hypertension

DEL chr37:11,244,987-11,245,192 rare, AF <1%
conserved (phyloP 4.99) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 12 SVs in this gene · candidate, not confirmed

ATM → ATM

tier #43

human disease: ataxia telangiectasia

DEL chr5:24,279,299-24,281,541 rare, AF <1%
conserved (phyloP 4.54) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 12 SVs in this gene · candidate, not confirmed

SERPINC1 → SERPINC1

tier #52

human disease: hereditary antithrombin deficiency

DEL chr7:25,222,053-25,222,135 rare, AF <1%
conserved (phyloP 3.51) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 2 SVs in this gene · candidate, not confirmed

KCNQ1 → KCNQ1

tier #54

human disease: atrial fibrillation, familial, 3

DEL chr18:47,266,855-47,267,424 rare, AF <1%
conserved (phyloP 3.47) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 21 SVs in this gene · candidate, not confirmed

CCDC40 → CCDC40

tier #66

human disease: glycogen storage disease II

DEL chr9:2,479,420-2,479,499 rare, AF <1%
conserved (phyloP 2.49) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 1 SV in this gene · candidate, not confirmed

APC → APC

tier #74

human disease: periampullary adenoma

DEL chr3:343,139-343,309 rare, AF <1%
conserved (phyloP 8.54) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 30 SVs in this gene · candidate, not confirmed

SCN3A → SCN3A

tier #91

human disease: polymicrogyria

DEL chr36:10,678,138-10,679,682 rare, AF <1%
conserved (phyloP 6.29) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 2 SVs in this gene · candidate, not confirmed

ABCA4 → ABCA4

tier #93

human disease: cone dystrophy

DEL chr6:55,622,293-55,622,995 rare, AF <1%
conserved (phyloP 5.83) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 48 SVs in this gene · candidate, not confirmed

UBE3A → UBE3A

tier #118

human disease: Angelman syndrome

DEL chr3:35,687,703-35,689,577 rare, AF <1%
conserved (phyloP 2.84) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 1 SV in this gene · candidate, not confirmed

CFTR → CFTR

tier #124

human disease: hereditary chronic pancreatitis

DEL chr14:56,428,505-56,430,128 rare, AF <1%
conserved (phyloP 3.62) · ClinVar 4★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 15 SVs in this gene · candidate, not confirmed

SCN1A → SCN1A

tier #129

human disease: migraine, familial hemiplegic, 3

DEL chr36:11,475,064-11,478,005 rare, AF <1%
conserved (phyloP 5.14) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 20 SVs in this gene · candidate, not confirmed

FBN1 → FBN1

tier #133

human disease: Marfan syndrome

DEL chr30:15,014,252-15,014,512 rare, AF <1%
conserved (phyloP 4.03) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 2 SVs in this gene · candidate, not confirmed

NEB → NEB

tier #152

human disease: nemaline myopathy 2

DEL chr19:54,617,544-54,617,757 rare, AF <1%
conserved (phyloP 2.58) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 6 SVs in this gene · candidate, not confirmed

SLC9A6 → SLC9A6

tier #155

human disease: intellectual disability

DEL chrX:107,356,979-107,357,231 rare, AF <1%
conserved (phyloP 5.04) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 2 SVs in this gene · candidate, not confirmed

MTOR → MTOR

tier #157

human disease: isolated focal cortical dysplasia type II

DEL chr2:84,376,213-84,376,272 rare, AF <1%
conserved (phyloP 2.64) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 8 SVs in this gene · candidate, not confirmed

CDKL5 → CDKL5

tier #164

human disease: developmental and epileptic encephalopathy, 2

DEL chrX:14,604,183-14,604,248 rare, AF <1%
conserved (phyloP 2.54) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 4 SVs in this gene · candidate, not confirmed

MYO6 → MYO6

tier #168

human disease: nonsyndromic genetic hearing loss

INS chr12:37,656,300-37,656,304 rare, AF <1%
conserved (phyloP 2.47) · ClinVar 3★ P/LP

a INS can realize loss-of-function / dosage change at this locus · 2 SVs in this gene · candidate, not confirmed

PIK3CA → PIK3CA

tier #179

human disease: breast adenocarcinoma

DEL chr34:12,786,636-12,787,570 rare, AF <1%
conserved (phyloP 3.67) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 10 SVs in this gene · candidate, not confirmed

RPE65 → RPE65

tier #187

human disease: retinal degeneration

DEL chr6:77,433,998-77,434,078 rare, AF <1%
conserved (phyloP 3.64) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 11 SVs in this gene · candidate, not confirmed

MTM1 → MTM1

tier #201

human disease: X-linked myotubular myopathy

DEL chrX:120,134,346-120,134,407 rare, AF <1%
conserved (phyloP 2.33) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 2 SVs in this gene · candidate, not confirmed

OTOF → OTOF

tier #224

human disease: autosomal recessive nonsyndromic hearing loss 9

DEL chr17:20,632,420-20,632,897 rare, AF <1%
conserved (phyloP 4.31) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 4 SVs in this gene · candidate, not confirmed

SHOC2 → SHOC2

tier #233

human disease: Noonan syndrome-like disorder with loose anagen hair 1

DEL chr28:22,495,789-22,497,542 rare, AF <1%
conserved (phyloP 2.69) · ClinVar 3★ P/LP

✗ Mechanism mismatch: activating_missense_gof, which a DEL cannot realize. Flagged, demoted below all compatible candidates.

MAP2K2 → MAP2K2

tier #234

human disease: cardiofaciocutaneous syndrome 4

DEL chr20:55,881,957-55,882,063 rare, AF <1%
conserved (phyloP 2.51) · ClinVar 3★ P/LP

✗ Mechanism mismatch: activating_missense_gof, which a DEL cannot realize. Flagged, demoted below all compatible candidates.

HTT → HTT

tier #238

human disease: Huntington disease

DEL chr3:61,658,491-61,659,015 rare, AF <1%
conserved (phyloP 2.89) · ClinVar 4★ P/LP

✗ Mechanism mismatch: repeat_expansion, which a DEL cannot realize. Flagged, demoted below all compatible candidates.

SOS1 → SOS1

tier #239

human disease: fibromatosis, gingival, 1

DEL chr17:31,236,345-31,236,520 rare, AF <1%
conserved (phyloP 4.30) · ClinVar 3★ P/LP

✗ Mechanism mismatch: activating_missense_gof, which a DEL cannot realize. Flagged, demoted below all compatible candidates.

MAP2K1 → MAP2K1

tier #249

human disease: melorheostosis

DEL chr30:31,167,524-31,167,888 rare, AF <1%
conserved (phyloP 5.10) · ClinVar 3★ P/LP

✗ Mechanism mismatch: activating_missense_gof, which a DEL cannot realize. Flagged, demoted below all compatible candidates.

KRAS → KRAS

tier #255

human disease: Noonan syndrome 3

DEL chr27:24,275,230-24,275,291 rare, AF <1%
conserved (phyloP 4.64) · ClinVar 3★ P/LP

✗ Mechanism mismatch: activating_missense_gof, which a DEL cannot realize. Flagged, demoted below all compatible candidates.

MYO7A → MYO7A

tier #264

human disease: Usher syndrome type 1

DEL chr21:21,694,883-21,695,102 common in Dog10K, AF 8% (a polymorphism, not a rare-disease signal)
conserved (phyloP 2.37) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 5 SVs in this gene · candidate, not confirmed

DCLRE1C → DCLRE1C

tier #269

human disease: severe combined immunodeficiency due to DCLRE1C deficiency

INS chr2:20,666,460-20,666,460 common in Dog10K, AF 9% (a polymorphism, not a rare-disease signal)
conserved (phyloP 2.02) · ClinVar 3★ P/LP

a INS can realize loss-of-function / dosage change at this locus · 3 SVs in this gene · candidate, not confirmed

ENG → ENG

tier #294

human disease: telangiectasia, hereditary hemorrhagic, type 1

INS chr9:55,670,620-55,670,622 common in Dog10K, AF 13% (a polymorphism, not a rare-disease signal)
conserved (phyloP 2.68) · ClinVar 3★ P/LP

a INS can realize loss-of-function / dosage change at this locus · 2 SVs in this gene · candidate, not confirmed

MSH2 → MSH2

tier #331

human disease: Lynch syndrome

DEL chr10:50,578,954-50,580,824 common in Dog10K, AF 31% (a polymorphism, not a rare-disease signal)
conserved (phyloP 2.90) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 6 SVs in this gene · candidate, not confirmed

TCF4 → TCF4

tier #337

human disease: Pitt-Hopkins syndrome

DEL chr1:20,215,284-20,215,513 common in Dog10K, AF 41% (a polymorphism, not a rare-disease signal)
conserved (phyloP 2.49) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 2 SVs in this gene · candidate, not confirmed

SCN2A → SCN2A

tier #345

human disease: seizures, benign familial infantile, 3

DEL chr36:10,863,556-10,863,935 common in Dog10K, AF 43% (a polymorphism, not a rare-disease signal)
conserved (phyloP 5.12) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 3 SVs in this gene · candidate, not confirmed

CDH1 → CDH1

tier #358

human disease: breast lobular carcinoma

DEL chr5:81,415,217-81,415,437 common in Dog10K, AF 47% (a polymorphism, not a rare-disease signal)
conserved (phyloP 3.59) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 7 SVs in this gene · candidate, not confirmed

BRCA1 → BRCA1

tier #379

human disease: hereditary breast ovarian cancer syndrome

DEL chr9:19,836,159-19,836,465 common in Dog10K, AF 62% (a polymorphism, not a rare-disease signal)
conserved (phyloP 3.85) · ClinVar 3★ P/LP

a DEL can realize loss-of-function / dosage change at this locus · 11 SVs in this gene · candidate, not confirmed

BRAF → BRAF

tier #390

human disease: colon carcinoma

DEL chr16:7,975,797-7,976,003 common in Dog10K, AF 65% (a polymorphism, not a rare-disease signal)
conserved (phyloP 2.24) · ClinVar 3★ P/LP

✗ Mechanism mismatch: activating_missense_gof, which a DEL cannot realize. Flagged, demoted below all compatible candidates.