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: rs12732894
rs12732894
3 0.882 0.080 1 17582733 intron variant G/A snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1476081557
rs1476081557
3 0.882 0.080 19 35721455 missense variant G/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2244444
rs2244444
3 0.882 0.080 1 17520426 intergenic variant C/T snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs230496
rs230496
3 0.882 0.080 4 102567334 intron variant G/A snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs3811741
rs3811741
3 0.882 0.080 4 127882004 intron variant G/A snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs587782237
rs587782237
3 0.882 0.080 17 7670637 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs745501336
rs745501336
3 0.882 0.080 3 129091263 missense variant C/T snv 4.6E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs764555290
rs764555290
3 0.882 0.080 12 52492759 missense variant G/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs779555087
rs779555087
3 0.882 0.080 20 44414561 missense variant A/G snv 1.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1234220
rs1234220
4 0.851 0.080 10 87885716 intron variant A/G snv 9.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs1330010954
rs1330010954
4 0.882 0.080 8 13094897 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs2241715
rs2241715
4 0.851 0.120 19 41350981 5 prime UTR variant A/C snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs230525
rs230525
4 0.882 0.080 4 102537720 non coding transcript exon variant G/A snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs230530
rs230530
4 0.882 0.080 4 102532823 intron variant A/G snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs372894000
rs372894000
4 0.882 0.080 8 13092766 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs756966085
rs756966085
4 0.882 0.080 8 13090431 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs769031989
rs769031989
4 0.851 0.160 17 42322464 missense variant T/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs80309960
rs80309960
4 0.851 0.080 2 216122110 missense variant T/A snv 3.5E-04 1.1E-03 0.010 1.000 1 2013 2013
dbSNP: rs843645
rs843645
5 0.827 0.120 2 54247527 intron variant T/A;G snv 0.19 0.020 1.000 2 2017 2019
dbSNP: rs1465444723
rs1465444723
5 0.827 0.240 22 30610886 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2299939
rs2299939
5 0.827 0.080 10 87897393 intron variant C/A;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs5854292
rs5854292
5 0.851 0.080 3 168680960 intron variant AA/-;A;AAA delins 0.010 1.000 1 2019 2019
dbSNP: rs1051861187
rs1051861187
6 0.827 0.080 7 87409385 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1760893
rs1760893
6 0.807 0.080 14 20412501 intron variant C/A snv 0.89 0.010 1.000 1 2016 2016
dbSNP: rs843706
rs843706
6 0.807 0.160 2 54253232 3 prime UTR variant C/A snv 0.42 0.010 1.000 1 2017 2017