STIM1, stromal interaction molecule 1, 6786

N. diseases: 247; N. variants: 23
Disease: Ventricular Septal Defects ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142239530
rs142239530 		0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0