Source: ALL
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: rs28940868
rs28940868
GAA
4 0.851 0.120 17 80112922 missense variant C/A;T snv 1.2E-04; 8.2E-06 0.810 1.000 29 1991 2017
dbSNP: rs121907936
rs121907936
GAA
3 0.882 0.120 17 80107894 missense variant T/A;C snv 4.2E-05 5.6E-05 0.810 1.000 25 1991 2018
dbSNP: rs757700700
rs757700700
GAA
2 0.925 0.120 17 80105872 missense variant C/T snv 2.1E-05 1.4E-05 0.810 1.000 8 2003 2014
dbSNP: rs776948121
rs776948121
GAA
2 0.925 0.120 17 80112928 missense variant C/G;T snv 1.2E-05 0.810 1.000 7 1994 2015
dbSNP: rs770610356
rs770610356
GAA
1 1.000 0.120 17 80108811 missense variant C/T snv 4.6E-06 3.5E-05 0.800 1.000 33 1991 2015
dbSNP: rs200856561
rs200856561
GAA
1 1.000 0.120 17 80107616 missense variant C/T snv 3.5E-04 1.6E-04 0.800 1.000 32 1991 2019
dbSNP: rs368438393
rs368438393
GAA
1 1.000 0.120 17 80112920 missense variant G/A;C;T snv 8.3E-06; 8.3E-06; 8.3E-06 0.800 1.000 32 1991 2015
dbSNP: rs577915581
rs577915581
GAA
1 1.000 0.120 17 80107625 missense variant C/T snv 2.1E-04 5.6E-05 0.800 1.000 32 1991 2019
dbSNP: rs778418246
rs778418246
GAA
1 1.000 0.120 17 80113002 missense variant G/A snv 2.1E-05 0.800 1.000 32 1991 2017
dbSNP: rs121907937
rs121907937
GAA
2 0.925 0.120 17 80110950 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 31 1991 2014
dbSNP: rs370950728
rs370950728
GAA
1 1.000 0.120 17 80105857 missense variant G/A snv 1.2E-05 6.3E-05 0.800 1.000 30 1991 2014
dbSNP: rs772883420
rs772883420
GAA
1 1.000 0.120 17 80110730 missense variant T/A;C snv 1.6E-05 0.800 1.000 29 1991 2017
dbSNP: rs121907938
rs121907938
GAA
2 0.925 0.120 17 80113350 missense variant C/A;T snv 3.9E-05 0.800 1.000 28 1991 2017
dbSNP: rs536906561
rs536906561
GAA
1 1.000 0.120 17 80112929 missense variant G/A snv 5.4E-05 1.4E-05 0.800 1.000 28 1991 2015
dbSNP: rs121907945
rs121907945
GAA
2 0.925 0.120 17 80107818 missense variant G/A snv 1.6E-05 2.8E-05 0.800 1.000 27 1991 2018
dbSNP: rs1555599667
rs1555599667
GAA
1 1.000 0.120 17 80107660 missense variant C/T snv 0.800 1.000 26 1991 2015
dbSNP: rs201896815
rs201896815
GAA
1 1.000 0.120 17 80107648 missense variant G/A snv 8.0E-06 4.2E-05 0.800 1.000 26 1991 2014
dbSNP: rs369531647
rs369531647
GAA
1 1.000 0.120 17 80112664 missense variant C/A;T snv 1.6E-05; 8.2E-06; 4.1E-06 0.800 1.000 26 1991 2018
dbSNP: rs528367092
rs528367092
GAA
1 1.000 0.120 17 80105771 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.800 1.000 26 1991 2018
dbSNP: rs755253527
rs755253527
GAA
1 1.000 0.120 17 80108495 missense variant C/G;T snv 1.2E-05 0.800 1.000 26 1991 2018
dbSNP: rs28937909
rs28937909
GAA
2 0.925 0.120 17 80112914 missense variant G/A;T snv 2.5E-05 0.800 1.000 25 1991 2014
dbSNP: rs778068209
rs778068209
GAA
1 1.000 0.120 17 80110050 missense variant G/A snv 4.0E-06 0.800 1.000 25 1991 2015
dbSNP: rs560575383
rs560575383
GAA
1 1.000 0.120 17 80108724 missense variant A/C;G;T snv 8.1E-06 0.800 1.000 24 1991 2016
dbSNP: rs786204645
rs786204645
GAA
1 1.000 0.120 17 80113281 missense variant C/T snv 1.4E-05 0.800 1.000 24 1991 2014
dbSNP: rs786204720
rs786204720
GAA
1 1.000 0.120 17 80110945 missense variant T/C snv 8.0E-06 7.0E-06 0.800 1.000 24 1991 2014