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: rs10405859
rs10405859
3 0.882 0.080 19 45099523 intron variant T/C snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10508293
rs10508293
1 1.000 0.040 10 5098945 intron variant A/G snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2001 2001
dbSNP: rs1057519753
rs1057519753
9 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1057519766
rs1057519766
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10740055
rs10740055
7 0.790 0.240 10 61958720 intron variant C/A snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs10821936
rs10821936
11 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs10931910
rs10931910
2 0.925 0.040 2 200659013 intron variant A/G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs11079041
rs11079041
4 0.882 0.040 17 42262061 intron variant T/A;C snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2018 2018
dbSNP: rs1188975135
rs1188975135
4 0.882 0.040 22 39017772 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2014 2014
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121913452
rs121913452
4 0.851 0.080 9 130873027 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs121913461
rs121913461
5 0.851 0.120 9 130862970 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs121913488
rs121913488
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1258094111
rs1258094111
2 0.925 0.040 14 24575388 missense variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs12672038
rs12672038
4 0.925 0.080 7 116547052 intron variant G/A snv 7.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1275561861
rs1275561861
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2015 2015
dbSNP: rs1360698171
rs1360698171
4 0.851 0.080 1 182584103 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs138213197
rs138213197
24 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs138817062
rs138817062
PML
4 0.882 0.040 15 74044940 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2019 2019