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: rs587777606
rs587777606
6 0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06 0.030 1.000 3 2015 2019
dbSNP: rs1064797245
rs1064797245
12 0.776 0.280 19 41970540 missense variant G/A snv 0.020 1.000 2 2017 2018
dbSNP: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.020 1.000 2 2003 2006
dbSNP: rs1057516085
rs1057516085
8 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057518443
rs1057518443
3 1.000 0.040 X 120557964 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1057518694
rs1057518694
2 1.000 12 32731069 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1057524792
rs1057524792
3 1.000 0.040 4 39467617 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1060499537
rs1060499537
2 1.000 1 196429676 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs113994095
rs113994095
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2011 2011
dbSNP: rs114925667
rs114925667
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs1162306056
rs1162306056
5 0.882 0.080 8 132174294 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs118192205
rs118192205
2 1.000 20 63442495 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs118192211
rs118192211
9 0.790 0.080 20 63439644 missense variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs118203933
rs118203933
CA2
6 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.010 1.000 1 2004 2004
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 2009 2009
dbSNP: rs121918046
rs121918046
4 0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs121918807
rs121918807
5 0.851 0.080 2 165994275 missense variant G/A snv 7.2E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs12800438
rs12800438
5 1.000 0.080 11 71459957 non coding transcript exon variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs143319805
rs143319805
12 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.010 1.000 1 2020 2020
dbSNP: rs1554616628
rs1554616628
2 1.000 7 76329927 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1562902
rs1562902
3 0.925 0.120 11 14896670 upstream gene variant C/T snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs1799821
rs1799821
8 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 2008 2008
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2007 2007
dbSNP: rs2118610
rs2118610
2 1.000 0.080 15 67135996 intron variant T/C snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs222020
rs222020
GC
5 0.851 0.320 4 71770555 intron variant C/T snv 0.72 0.010 1.000 1 2017 2017