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: rs76850691
rs76850691
1 10 99397681 stop gained G/A;C snv 4.0E-06; 5.2E-03 0.700 1.000 2 2013 2019
dbSNP: rs10001545
rs10001545
3 4 87254878 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11292716
rs11292716
1 7 95305887 intron variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs114059064
rs114059064
1 6 33108491 upstream gene variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs115695709
rs115695709
1 6 32223562 intron variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs13077101
rs13077101
4 3 120706484 intron variant T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs147627531
rs147627531
1 4 20989760 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2241339
rs2241339
3 2 169013785 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs319991
rs319991
1 1 48651222 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4949718
rs4949718
3 1 76433779 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs74913549
rs74913549
3 11 94180526 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs79105258
rs79105258
24 12 111280427 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs79303598
rs79303598
1 5 65249673 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs139761834
rs139761834
3 7 80545045 intron variant T/C snv 2.8E-04 0.700 1.000 1 2018 2018
dbSNP: rs144430312
rs144430312
1 10 17693720 intron variant T/C snv 3.4E-04 0.700 1.000 1 2018 2018
dbSNP: rs11067592
rs11067592
2 12 109631385 intergenic variant G/T snv 1.2E-03 0.700 1.000 1 2018 2018
dbSNP: rs75759936
rs75759936
3 4 78698045 intergenic variant C/A snv 5.0E-03 0.700 1.000 1 2018 2018
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs12231737
rs12231737
5 0.925 0.120 12 112136812 intron variant C/T snv 5.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs137866734
rs137866734
1 1 94074274 intron variant C/T snv 6.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs11066280
rs11066280
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.700 1.000 1 2019 2019
dbSNP: rs138424361
rs138424361
1 18 61567782 downstream gene variant G/A snv 9.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs76622665
rs76622665
1 5 65395057 intron variant T/C snv 9.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs117983281
rs117983281
1 9 2809077 intron variant C/T snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs73154660
rs73154660
1 3 157229738 intron variant A/G snv 1.7E-02 0.700 1.000 1 2019 2019