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: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.714 14 2006 2019
dbSNP: rs301434
rs301434
2 0.925 0.040 9 4582082 intron variant C/G;T snv 0.040 1.000 4 2006 2019
dbSNP: rs9653711
rs9653711
4 0.851 0.120 21 33029641 intron variant G/A;C snv 0.030 1.000 3 2007 2019
dbSNP: rs10491734
rs10491734
1 1.000 0.040 9 4482706 intergenic variant T/A;C snv 0.020 1.000 2 2013 2013
dbSNP: rs28914832
rs28914832
3 0.925 0.120 17 30211356 missense variant T/C;G snv 7.4E-04 0.020 1.000 2 2011 2013
dbSNP: rs3780412
rs3780412
1 1.000 0.040 9 4572480 intron variant T/C;G snv 0.020 1.000 2 2007 2019
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: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2006 2018
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: rs11149058
rs11149058
2 0.925 0.120 13 76978136 downstream gene variant T/A;C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs11583978
rs11583978
2 0.925 0.040 1 34864921 downstream gene variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs11783752
rs11783752
2 0.925 0.040 8 20192013 intergenic variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs12504244
rs12504244
2 0.925 0.040 4 54619021 intergenic variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12635725
rs12635725
1 1.000 0.040 3 1895465 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
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
dbSNP: rs1556995
rs1556995
1 1.000 0.040 6 101869470 intron variant C/A;T snv 0.010 1.000 1 2011 2011
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: rs1800042
rs1800042
2 1.000 0.040 5 63960902 missense variant C/A;T snv 8.0E-06; 1.4E-03 0.010 1.000 1 2019 2019
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: rs2071592
rs2071592
3 0.882 0.200 6 31547563 intron variant T/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs2075507
rs2075507
2 0.925 0.040 22 19940569 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2097603
rs2097603
3 0.882 0.040 22 19940569 intron variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs237887
rs237887
2 1.000 0.040 3 8755356 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs297941
rs297941
1 1.000 0.040 12 49925303 non coding transcript exon variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs301979
rs301979
2 0.925 0.040 9 4576851 intron variant G/A;C snv 0.010 1.000 1 2008 2008