Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121965033
rs121965033
0.925 0.120 4 1002333 missense variant T/C;G snv 4.0E-06
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.010 1.000 1 2020 2020