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: rs104894245
rs104894245
1 1.000 0.120 11 128839644 missense variant G/C snv 4.0E-06 0.800 1.000 3 1996 1998
dbSNP: rs104894246
rs104894246
1 1.000 0.120 11 128839660 missense variant G/A;C snv 1.6E-05 0.800 1.000 3 1996 1998
dbSNP: rs104894250
rs104894250
1 1.000 0.120 11 128839979 missense variant C/G snv 0.800 1.000 3 1996 1998
dbSNP: rs104894251
rs104894251
2 1.000 0.120 11 128839929 missense variant A/G;T snv 0.800 1.000 3 1996 1998
dbSNP: rs104894253
rs104894253
1 1.000 0.120 11 128839709 missense variant C/A;T snv 0.800 1.000 3 1996 1998
dbSNP: rs104894254
rs104894254
1 1.000 0.120 11 128839801 missense variant C/T snv 1.2E-05 0.800 1.000 3 1996 1998
dbSNP: rs1213764655
rs1213764655
1 1.000 0.120 11 128840004 missense variant C/A snv 2.8E-05 0.700 1.000 3 1996 1998
dbSNP: rs373745258
rs373745258
1 1.000 0.120 11 128839972 missense variant G/A;T snv 2.4E-05; 1.2E-05 0.700 1.000 3 1996 1998
dbSNP: rs59172778
rs59172778
1 1.000 0.120 11 128839231 missense variant A/G snv 7.3E-03 7.8E-03 0.700 1.000 3 1996 1998
dbSNP: rs104894244
rs104894244
1 1.000 0.120 11 128840064 stop gained G/A;C snv 2.7E-04 0.700 0
dbSNP: rs185212943
rs185212943
1 1.000 0.120 11 128839982 stop gained T/A;C snv 4.4E-04 0.700 0
dbSNP: rs377205432
rs377205432
1 1.000 0.120 11 128839289 stop gained G/A snv 8.0E-05 2.8E-05 0.700 0
dbSNP: rs753949204
rs753949204
1 1.000 0.120 11 128839357 missense variant A/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs766131330
rs766131330
1 1.000 0.120 11 128839936 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0