Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135401743
rs1135401743
HAAO ; MTA3
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017