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: rs151344484
rs151344484
2 1.000 0.120 X 37803991 missense variant C/T snv 0.700 1.000 20 1989 2016
dbSNP: rs151344485
rs151344485
1 1.000 0.120 X 37804010 missense variant C/T snv 0.700 1.000 20 1989 2016
dbSNP: rs151344493
rs151344493
1 1.000 0.120 X 37796045 missense variant C/T snv 0.700 1.000 20 1989 2016
dbSNP: rs137854592
rs137854592
1 1.000 0.120 X 37798956 stop gained C/T snv 5.8E-06 9.5E-06 0.700 1.000 7 1992 2018
dbSNP: rs137854588
rs137854588
1 1.000 0.120 X 37783565 stop gained C/T snv 0.700 1.000 4 1991 2015
dbSNP: rs1049255
rs1049255
9 0.776 0.320 16 88643329 3 prime UTR variant C/T snv 0.49 0.48 0.010 1.000 1 2017 2017
dbSNP: rs1556469197
rs1556469197
1 1.000 0.120 X 37799061 stop gained C/T snv 0.700 1.000 1 1996 1996
dbSNP: rs1569479953
rs1569479953
1 1.000 0.120 X 37804064 missense variant C/T snv 0.700 1.000 1 2000 2000
dbSNP: rs782047455
rs782047455
3 0.925 0.160 X 37793674 missense variant C/T snv 5.5E-06 0.010 1.000 1 2011 2011
dbSNP: rs387906486
rs387906486
1 1.000 0.120 X 37782132 stop gained CCG/GGT mnv 0.700 0
dbSNP: rs137854590
rs137854590
1 1.000 0.120 X 37793793 missense variant G/A snv 0.800 1.000 20 1989 2016
dbSNP: rs151344466
rs151344466
1 1.000 0.120 X 37803904 missense variant G/A snv 0.700 1.000 20 1989 2016
dbSNP: rs151344467
rs151344467
1 1.000 0.120 X 37803944 missense variant G/A snv 0.700 1.000 20 1989 2016
dbSNP: rs151344473
rs151344473
1 1.000 0.120 X 37805076 missense variant G/A snv 0.700 1.000 20 1989 2016
dbSNP: rs151344491
rs151344491
1 1.000 0.120 X 37796002 missense variant G/A snv 0.700 1.000 20 1989 2016
dbSNP: rs1556471620
rs1556471620
1 1.000 0.120 X 37806386 splice acceptor variant G/A snv 0.700 1.000 3 1998 2010
dbSNP: rs1556473119
rs1556473119
1 1.000 0.120 X 37810906 missense variant G/A snv 0.700 1.000 2 2000 2010
dbSNP: rs1569479943
rs1569479943
1 1.000 0.120 X 37803990 stop gained G/A snv 0.700 0
dbSNP: rs137854586
rs137854586
1 1.000 0.120 X 37805020 missense variant G/A;C snv 0.800 1.000 20 1989 2016
dbSNP: rs137854589
rs137854589
1 1.000 0.120 X 37799011 missense variant G/A;C snv 0.800 1.000 20 1989 2016
dbSNP: rs151344471
rs151344471
1 1.000 0.120 X 37804046 missense variant G/A;C snv 5.5E-06 0.700 1.000 20 1989 2016
dbSNP: rs151344474
rs151344474
1 1.000 0.120 X 37805077 missense variant G/A;C snv 5.5E-06 0.700 1.000 20 1989 2016
dbSNP: rs387906485
rs387906485
1 1.000 0.120 X 37783600 splice region variant G/A;T snv 0.700 1.000 4 1998 2012
dbSNP: rs151344455
rs151344455
1 1.000 0.120 X 37782100 missense variant G/C snv 0.700 1.000 20 1989 2016
dbSNP: rs151344456
rs151344456
2 1.000 0.120 X 37783510 missense variant G/C snv 0.700 1.000 20 1989 2016