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: rs1229919945
rs1229919945
1 1.000 0.040 6 43782041 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs3197999
rs3197999
16 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.010 1.000 1 2013 2013
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2010 2010