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: rs1556995
rs1556995
1 1.000 0.040 6 101869470 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1417182
rs1417182
1 1.000 0.040 6 101885466 intron variant G/A snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs3758987
rs3758987
4 0.925 0.080 11 113904553 upstream gene variant T/C snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2020 2020
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs4401971
rs4401971
1 1.000 0.040 9 11890045 intron variant A/C;G;T snv 0.800 1.000 1 2015 2015
dbSNP: rs1000592
rs1000592
1 1.000 0.040 2 118939624 upstream gene variant C/A snv 6.4E-03 0.010 1.000 1 2014 2014
dbSNP: rs4271390
rs4271390
2 0.925 0.120 11 119655426 intron variant T/C snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs6131293
rs6131293
1 1.000 0.040 20 12014779 intergenic variant A/G snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs6131295
rs6131295
1 1.000 0.040 20 12015619 regulatory region variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs6109227
rs6109227
1 1.000 0.040 20 12018497 intergenic variant A/T snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs4825476
rs4825476
2 0.925 0.040 X 123307628 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1805477
rs1805477
3 0.882 0.080 12 13561795 3 prime UTR variant T/A;C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs28696717
rs28696717
1 1.000 0.040 1 153493087 intergenic variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs1799972
rs1799972
6 0.827 0.080 6 154039561 missense variant C/A;G;T snv 4.1E-06; 1.7E-02 0.010 1.000 1 2004 2004
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2004 2004
dbSNP: rs1477437491
rs1477437491
2 0.925 0.040 1 162367213 missense variant G/A snv 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs4387163
rs4387163
1 1.000 0.040 1 165026476 intergenic variant G/A snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs56151798
rs56151798
1 1.000 0.040 11 18022863 synonymous variant A/G snv 6.0E-03 6.4E-03 0.010 1.000 1 1999 1999
dbSNP: rs6443930
rs6443930
1 1.000 0.040 3 184036506 splice donor variant G/A;C;T snv 0.46; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs7628229
rs7628229
1 1.000 0.040 3 184036872 missense variant C/G;T snv 6.4E-06; 2.7E-03 9.5E-03 0.010 1.000 1 2014 2014
dbSNP: rs1000952
rs1000952
1 1.000 0.040 3 184038034 missense variant G/A;C;T snv 0.66; 3.6E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs6766410
rs6766410
2 1.000 0.040 3 184056974 missense variant C/A;T snv 0.45; 4.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs1265692223
rs1265692223
1 1.000 0.040 3 184100530 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014