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: rs121908735
rs121908735
ADA
3 0.882 0.160 20 44625581 missense variant G/A snv 1.4E-05 0.700 1.000 3 1998 2015
dbSNP: rs1064793347
rs1064793347
IL2RG ; CXorf65
3 0.925 0.120 X 71107864 stop gained G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs750917798
rs750917798
RASSF1
1 1.000 0.120 3 50331718 missense variant G/A snv 8.0E-06 1.4E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs780014431
rs780014431
ADA
2 0.925 0.120 20 44625623 stop gained G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs898332991
rs898332991
RASSF1
1 1.000 0.120 3 50331652 missense variant G/A snv 4.0E-06 4.2E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs193922361
rs193922361
JAK3
2 0.925 0.120 19 17837171 missense variant G/A snv 0.700 0
dbSNP: rs193922362
rs193922362
JAK3
1 1.000 0.120 19 17837148 synonymous variant G/A snv 5.8E-06 0.700 0
dbSNP: rs193922574
rs193922574
RAG2 ; IFTAP
1 1.000 0.120 11 36593952 missense variant G/A snv 2.4E-05 2.8E-05 0.700 0
dbSNP: rs193922641
rs193922641
IL7R
3 0.882 0.120 5 35867437 missense variant G/A snv 1.2E-05 4.2E-05 0.700 0
dbSNP: rs74315329
rs74315329
MYOC ; MYOCOS
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0
dbSNP: rs150739647
rs150739647
RAG1 ; RAG2
2 0.925 0.120 11 36576228 missense variant G/A;C snv 4.4E-05; 4.0E-06 0.700 1.000 8 2000 2016
dbSNP: rs121908721
rs121908721
ADA ; PKIG
3 0.882 0.160 20 44621121 missense variant G/A;C snv 2.4E-05 0.710 1.000 1 2019 2019
dbSNP: rs1384988139
rs1384988139
RASSF1
1 1.000 0.120 3 50330655 missense variant G/A;C snv 0.010 < 0.001 1 2004 2004
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
dbSNP: rs193922645
rs193922645
IL7R
1 1.000 0.120 5 35873586 missense variant G/T snv 0.700 0
dbSNP: rs137852624
rs137852624
JAK3
3 0.882 0.120 19 17843786 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1450116153
rs1450116153
GHR
2 1.000 0.120 5 42711220 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs28936072
rs28936072
DKC1
4 0.851 0.200 X 154765472 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs193922575
rs193922575
RAG2 ; IFTAP
1 1.000 0.120 11 36593841 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1555743321
rs1555743321
JAK3
1 1.000 0.120 19 17831775 frameshift variant TGACCAGCCGCAGGCTCTGGCG/- del 0.700 0