SOX4, SRY-box transcription factor 4, 6659

N. diseases: 246; N. variants: 1
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: rs1334099693
rs1334099693 		0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2019 2019