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: rs121908716
rs121908716
ADA ; PKIG
2 0.925 0.160 20 44623053 missense variant C/T snv 7.2E-05 9.8E-05 0.800 1.000 18 1984 2015
dbSNP: rs121908723
rs121908723
ADA ; PKIG
4 0.851 0.240 20 44623039 missense variant C/T snv 1.2E-05 5.6E-05 0.800 1.000 18 1984 2016
dbSNP: rs121908715
rs121908715
ADA ; PKIG
3 0.882 0.240 20 44620391 missense variant G/A snv 5.2E-05 2.0E-04 0.800 1.000 17 1984 2015
dbSNP: rs121908719
rs121908719
ADA
1 1.000 20 44624279 missense variant C/T snv 2.0E-05 0.800 1.000 15 1984 2015
dbSNP: rs121908721
rs121908721
ADA ; PKIG
3 0.882 0.160 20 44621121 missense variant G/A;C snv 2.4E-05 0.800 1.000 15 1984 2015
dbSNP: rs121908722
rs121908722
ADA
2 0.925 0.160 20 44625580 missense variant C/A;G;T snv 0.800 1.000 15 1984 2015
dbSNP: rs121908739
rs121908739
ADA
2 0.925 0.160 20 44626498 missense variant A/G snv 7.2E-05 7.0E-05 0.800 1.000 15 1984 2016
dbSNP: rs121908725
rs121908725
ADA
1 1.000 20 44636279 missense variant G/C snv 8.3E-06 1.4E-05 0.800 1.000 14 1984 2015
dbSNP: rs121908731
rs121908731
ADA
1 1.000 20 44625662 missense variant C/A;T snv 0.800 1.000 14 1984 2015
dbSNP: rs121908735
rs121908735
ADA
3 0.882 0.160 20 44625581 missense variant G/A snv 1.4E-05 0.800 1.000 14 1984 2016
dbSNP: rs121908740
rs121908740
ADA ; PKIG
3 0.882 0.160 20 44623054 missense variant G/A snv 1.3E-04 7.0E-06 0.800 1.000 13 1984 1998
dbSNP: rs121908714
rs121908714
ADA
2 0.925 0.160 20 44626516 missense variant C/A;G;T snv 4.0E-06; 8.0E-06 0.700 1.000 11 1984 1998
dbSNP: rs121908717
rs121908717
ADA
1 1.000 20 44626517 missense variant G/A snv 1.4E-05 0.700 1.000 11 1984 1998
dbSNP: rs121908718
rs121908718
ADA ; PKIG
2 0.925 0.160 20 44621103 missense variant G/A;T snv 8.0E-06; 2.8E-05 0.700 1.000 11 1984 1998
dbSNP: rs121908724
rs121908724
ADA
2 0.925 0.160 20 44636264 missense variant C/T snv 7.0E-06 0.700 1.000 11 1984 1998
dbSNP: rs121908726
rs121908726
ADA
4 0.851 0.160 20 44626570 missense variant G/C;T snv 4.0E-06 0.700 1.000 11 1984 1998
dbSNP: rs121908727
rs121908727
ADA
4 0.851 0.160 20 44624272 missense variant G/T snv 1.2E-05 0.700 1.000 11 1984 1998
dbSNP: rs121908730
rs121908730
ADA
1 1.000 20 44626598 missense variant C/A snv 0.700 1.000 11 1984 1998
dbSNP: rs121908732
rs121908732
ADA
1 1.000 20 44625628 missense variant C/G;T snv 5.0E-06 0.700 1.000 11 1984 1998
dbSNP: rs121908733
rs121908733
ADA
1 1.000 20 44625602 missense variant G/A;C;T snv 1.4E-05; 4.7E-06 0.700 1.000 11 1984 1998
dbSNP: rs121908734
rs121908734
ADA ; PKIG
1 1.000 20 44624212 missense variant T/C;G snv 4.1E-06 0.700 1.000 11 1984 1998
dbSNP: rs121908736
rs121908736
ADA
1 1.000 20 44626592 missense variant G/A snv 2.8E-04 8.0E-04 0.700 1.000 11 1984 1998
dbSNP: rs121908737
rs121908737
ADA
1 1.000 20 44625601 missense variant C/T snv 6.3E-05 0.700 1.000 11 1984 1998
dbSNP: rs121908738
rs121908738
ADA ; PKIG
1 1.000 20 44622612 missense variant G/A snv 4.4E-05 7.0E-05 0.700 1.000 11 1984 1998
dbSNP: rs79281338
rs79281338
ADA ; PKIG
1 1.000 20 44622905 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 6 2001 2019