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: rs1555669248
rs1555669248
6 0.807 0.280 18 12325970 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs267607165
rs267607165
18 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs755588390
rs755588390
7 0.851 0.160 6 162262672 missense variant T/C;G snv 0.010 1.000 1 2007 2007