Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517148
rs397517148
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
T 0.700 CausalMutation CLINVAR