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: rs137853129
rs137853129
1 1.000 0.080 17 72122749 missense variant C/G;T snv 4.0E-06 0.800 1.000 12 1995 2013
dbSNP: rs137853128
rs137853128
2 0.925 0.080 17 72121618 missense variant C/A snv 0.710 1.000 12 1995 2013
dbSNP: rs104894647
rs104894647
2 0.925 0.080 17 72122804 missense variant A/G snv 0.700 1.000 12 1995 2013
dbSNP: rs137853130
rs137853130
2 0.925 0.200 17 72122759 missense variant G/A snv 0.700 1.000 12 1995 2013
dbSNP: rs1407667250
rs1407667250
1 1.000 0.080 17 72121727 missense variant C/A snv 0.700 1.000 12 1995 2013
dbSNP: rs28940282
rs28940282
2 0.925 0.080 17 72122780 missense variant C/T snv 0.700 1.000 12 1995 2013
dbSNP: rs1057518216
rs1057518216
1 1.000 0.080 17 72124037 stop gained C/A;T snv 0.700 0
dbSNP: rs1057518669
rs1057518669
1 1.000 0.080 17 72124284 missense variant T/C snv 0.700 0
dbSNP: rs1131691554
rs1131691554
1 1.000 0.080 17 72122796 missense variant C/T snv 0.700 0
dbSNP: rs1555629022
rs1555629022
1 1.000 0.080 17 72121643 stop gained C/G snv 0.700 0
dbSNP: rs1555629037
rs1555629037
1 1.000 0.080 17 72121740 stop gained C/T snv 0.700 0
dbSNP: rs1555629158
rs1555629158
1 1.000 0.080 17 72122802 missense variant A/G snv 0.700 0
dbSNP: rs1555629443
rs1555629443
1 1.000 0.080 17 72124229 stop gained C/T snv 0.700 0
dbSNP: rs1567910689
rs1567910689
1 1.000 0.080 17 72122778 missense variant A/C snv 0.700 0
dbSNP: rs587776541
rs587776541
2 0.925 0.200 17 72123592 frameshift variant -/C delins 0.700 0
dbSNP: rs80338688
rs80338688
2 0.925 0.200 17 72124177 stop gained C/A;G;T snv 3.3E-04 0.700 0
dbSNP: rs866706988
rs866706988
2 0.925 0.200 17 72122795 missense variant C/A;T snv 0.700 0
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.070 1.000 7 2007 2009
dbSNP: rs104894681
rs104894681
10 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs764670582
rs764670582
5 0.827 0.120 6 121447563 missense variant G/A snv 2.4E-05 4.2E-05 0.010 1.000 1 2013 2013