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: rs301443
rs301443
1 1.000 0.040 9 4594919 intron variant C/G snv 0.72 0.050 0.800 5 2010 2019
dbSNP: rs2228622
rs2228622
1 1.000 0.040 9 4564432 synonymous variant G/A snv 0.39 0.35 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: rs2883187
rs2883187
1 1.000 0.040 11 27719545 5 prime UTR variant G/A snv 0.40 0.020 1.000 2 2014 2020
dbSNP: rs3780412
rs3780412
1 1.000 0.040 9 4572480 intron variant T/C;G snv 0.020 1.000 2 2007 2019
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: 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: rs1148374
rs1148374
1 1.000 0.040 18 28070318 intron variant T/A snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs11854486
rs11854486
1 1.000 0.040 15 50660473 intron variant T/C snv 7.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs12536521
rs12536521
1 1.000 0.040 7 89349373 intergenic variant T/A snv 4.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs12605662
rs12605662
1 1.000 0.040 18 28171702 intron variant G/A snv 0.48 0.010 1.000 1 2016 2016
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: rs12682807
rs12682807
1 1.000 0.040 9 4574022 splice region variant A/C snv 0.11 8.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs13046814
rs13046814
1 1.000 0.040 21 33029069 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2007 2007
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: rs150504822
rs150504822
1 1.000 0.040 13 83880256 missense variant T/A snv 1.3E-03 1.2E-03 0.010 1.000 1 2013 2013
dbSNP: rs1556995
rs1556995
1 1.000 0.040 6 101869470 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs17162912
rs17162912
1 1.000 0.040 1 222801584 intergenic variant T/C snv 0.11 0.010 1.000 1 2018 2018
dbSNP: rs1755715
rs1755715
1 1.000 0.040 14 59440374 intron variant A/T snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs1838733
rs1838733
1 1.000 0.040 5 59237566 intron variant C/T snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs2000292
rs2000292
1 1.000 0.040 6 77457228 downstream gene variant G/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs201333291
rs201333291
1 1.000 0.040 18 27985092 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs2097063
rs2097063
1 1.000 0.040 18 73963859 intron variant T/C snv 0.19 0.010 < 0.001 1 2015 2015
dbSNP: rs2364841
rs2364841
1 1.000 0.040 14 77817693 intron variant A/G snv 0.86 0.700 1.000 1 2019 2019