Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs75389940
rs75389940
3 0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06 0.830 1.000 3 2001 2017