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: 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 0
dbSNP: rs121908715
rs121908715
ADA ; PKIG
3 0.882 0.240 20 44620391 missense variant G/A snv 5.2E-05 2.0E-04 0.700 0
dbSNP: rs121908716
rs121908716
ADA ; PKIG
2 0.925 0.160 20 44623053 missense variant C/T snv 7.2E-05 9.8E-05 0.700 0
dbSNP: rs121908721
rs121908721
ADA ; PKIG
3 0.882 0.160 20 44621121 missense variant G/A;C snv 2.4E-05 0.700 0
dbSNP: rs121908723
rs121908723
ADA ; PKIG
4 0.851 0.240 20 44623039 missense variant C/T snv 1.2E-05 5.6E-05 0.700 0
dbSNP: rs121908735
rs121908735
ADA
3 0.882 0.160 20 44625581 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs121908739
rs121908739
ADA
2 0.925 0.160 20 44626498 missense variant A/G snv 7.2E-05 7.0E-05 0.700 0
dbSNP: rs199422327
rs199422327
ADA ; PKIG
1 1.000 0.160 20 44621082 missense variant A/C snv 4.4E-05 2.1E-05 0.700 0
dbSNP: rs199422328
rs199422328
ADA
2 0.925 0.160 20 44626597 missense variant C/A snv 8.0E-06 8.4E-05 0.700 0
dbSNP: rs387906267
rs387906267
ADA
2 0.925 0.160 20 44626601 splice acceptor variant T/C snv 0.700 0
dbSNP: rs587776534
rs587776534
ADA
1 1.000 0.160 20 44651574 splice donor variant C/G snv 0.700 0
dbSNP: rs761242509
rs761242509
ADA
2 0.925 0.160 20 44625568 splice donor variant C/T snv 2.1E-05 2.8E-05 0.700 0
dbSNP: rs121908724
rs121908724
ADA
2 0.925 0.160 20 44636264 missense variant C/T snv 7.0E-06 0.010 1.000 1 1994 1994
dbSNP: rs121908726
rs121908726
ADA
4 0.851 0.160 20 44626570 missense variant G/C;T snv 4.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs121908727
rs121908727
ADA
4 0.851 0.160 20 44624272 missense variant G/T snv 1.2E-05 0.010 1.000 1 1995 1995