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: rs104893900
rs104893900
2 1.000 5 173233011 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs104893907
rs104893907
3 1.000 5 173232776 stop gained A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs104894073
rs104894073
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1060499548
rs1060499548
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs111862418
rs111862418
1 7 35204548 missense variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2016 2016
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1213930919
rs1213930919
9 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs121908557
rs121908557
23 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
dbSNP: rs121913528
rs121913528
12 0.851 0.160 12 25227349 missense variant C/A;T snv 0.700 0
dbSNP: rs132630297
rs132630297
6 0.925 0.280 X 134425256 stop gained C/A;T snv 0.700 0
dbSNP: rs1340513
rs1340513
4 0.882 0.120 9 6977633 intron variant G/A snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs1344172059
rs1344172059
12 0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1345146178
rs1345146178
1 5 173233003 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1346496644
rs1346496644
1 1 85581440 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1364709483
rs1364709483
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs137852952
rs137852952
2 1.000 0.080 4 166003471 missense variant T/C snv 2.1E-04 2.4E-04 0.010 1.000 1 2009 2009
dbSNP: rs1390448535
rs1390448535
1 7 151007245 missense variant C/G snv 4.2E-06 0.010 1.000 1 2010 2010
dbSNP: rs1393297693
rs1393297693
SRF
3 1.000 0.040 6 43178806 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs141322087
rs141322087
13 0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs141441277
rs141441277
5 0.882 0.120 X 100689933 missense variant G/A snv 5.6E-04 3.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs142239530
rs142239530
24 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
dbSNP: rs143978652
rs143978652
6 0.882 0.080 14 23393437 missense variant C/A;T snv 9.3E-04; 4.0E-06 0.010 1.000 1 2011 2011