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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2006 2006
dbSNP: rs771306418
rs771306418
5 0.851 0.120 3 9765885 splice acceptor variant -/C delins 0.010 1.000 1 2005 2005
dbSNP: rs377429877
rs377429877
10 0.776 0.080 13 33518027 intron variant -/TAA delins 6.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs16892766
rs16892766
18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.710 1.000 2 2015 2019
dbSNP: rs1105879
rs1105879
11 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2006 2006
dbSNP: rs188096
rs188096
1 1.000 0.080 13 103052694 missense variant A/C snv 0.85 0.89 0.010 1.000 1 2008 2008
dbSNP: rs6058093
rs6058093
12 0.776 0.080 20 34625392 intron variant A/C snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs6068583
rs6068583
1 1.000 0.080 20 53559566 intron variant A/C snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs719725
rs719725
7 0.827 0.080 9 6365683 intergenic variant A/C snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs9924886
rs9924886
10 0.776 0.080 16 68710036 intron variant A/C snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs1057910
rs1057910
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2287939
rs2287939
4 0.851 0.160 5 33998778 missense variant A/C;G snv 1.6E-05; 0.70 0.010 1.000 1 2007 2007
dbSNP: rs35107139
rs35107139
11 0.776 0.080 14 53952388 intron variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2250430
rs2250430
10 0.776 0.080 12 6312008 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs846672
rs846672
1 1.000 0.080 7 122990126 downstream gene variant A/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.909 11 2000 2011
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.050 0.800 5 1998 2013
dbSNP: rs10505477
rs10505477
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.020 1.000 2 2016 2019
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2005 2012
dbSNP: rs11087784
rs11087784
10 0.776 0.080 20 7760329 intergenic variant A/G snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs11190164
rs11190164
10 0.776 0.080 10 99591947 intergenic variant A/G snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs1126667
rs1126667
8 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 0.010 1.000 1 2007 2007
dbSNP: rs1198119472
rs1198119472
2 0.925 0.120 6 52799190 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs12372718
rs12372718
10 0.776 0.080 12 50777307 intron variant A/G snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs13086367
rs13086367
10 0.776 0.080 3 113185041 downstream gene variant A/G snv 0.38 0.700 1.000 1 2019 2019