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: rs104894031
rs104894031
1 1.000 0.120 7 128775556 missense variant C/T snv 3.3E-04 1.7E-04 0.800 1.000 3 1992 2012
dbSNP: rs104894032
rs104894032
1 1.000 0.120 7 128774545 missense variant A/C;G snv 3.2E-05; 1.2E-05 0.800 1.000 3 1992 2012
dbSNP: rs104894033
rs104894033
3 0.925 0.120 7 128773786 missense variant G/A snv 3.2E-05 3.5E-05 0.800 1.000 3 1992 2012
dbSNP: rs1190183515
rs1190183515
1 1.000 0.120 7 128774616 missense variant G/A snv 0.700 0
dbSNP: rs11203289
rs11203289
3 0.882 0.240 1 17054012 missense variant G/A;C snv 4.1E-06; 3.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs1131691061
rs1131691061
6 0.827 0.280 1 17054017 start lost C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1398198098
rs1398198098
1 1.000 0.120 5 218363 missense variant G/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2015 2015
dbSNP: rs587776652
rs587776652
4 0.882 0.200 1 161314408 start lost G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2005 2005
dbSNP: rs80338842
rs80338842
8 0.790 0.280 11 112086910 start lost G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs878854590
rs878854590
4 0.851 0.240 11 112088869 frameshift variant G/- delins 0.010 1.000 1 2012 2012