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: rs754945616
rs754945616
3 0.882 0.120 5 87268639 missense variant G/T snv 4.2E-06 0.010 1.000 1 2017 2017