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: rs760160309
rs760160309
1 1.000 0.120 17 75174814 missense variant T/C snv 4.0E-06 0.010 1.000 1 2004 2004