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.

SCN8A → SCN8A

tier #3

human disease: developmental and epileptic encephalopathy, 13, complex neurodevelopmental disorder, early-infantile DEE, cognitive impairment with or without cerebellar ataxia, +4 more

ortholog: one2one (high-corroborated) · conserved (phyloP 8.90) · ClinVar 3★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

4 variants in this gene · best: chr27:43476519 G>T · candidate, not confirmed

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

SCN2A → SCN2A

tier #8

human disease: developmental and epileptic encephalopathy, 11, complex neurodevelopmental disorder, seizures, benign familial infantile, 3

ortholog: one2one (high-corroborated) · conserved (phyloP 8.90) · ClinVar 3★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

6 variants in this gene · best: chr36:10833381 C>T · candidate, not confirmed

SCN1A → SCN1A

tier #9

human disease: Dravet syndrome, migraine, familial hemiplegic, 3, generalized epilepsy with febrile seizures plus, type 2, generalized epilepsy with febrile seizures plus

ortholog: one2one (high-corroborated) · conserved (phyloP 8.87) · ClinVar 3★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

1 variant in this gene · best: chr36:11453818 C>T · candidate, not confirmed

DICER1 → DICER1

tier #10

human disease: DICER1-related tumor predisposition, goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, pleuropulmonary blastoma, global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, +1 more

ortholog: one2one (high-corroborated) · conserved (phyloP 8.80) · ClinVar 3★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

5 variants in this gene · best: chr8:64315831 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

RYR1 → RYR1

tier #25

human disease: malignant hyperthermia, susceptibility to, 1, central core myopathy, congenital multicore myopathy with external ophthalmoplegia, malignant hyperthermia of anesthesia, +4 more

ortholog: one2one (high) · conserved (phyloP 8.64) · ClinVar 3★ · gnomAD constrained · Evo 2 damaging · 1/3974 dogs

7 variants in this gene · best: chr1:115309510 C>G · 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.