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: 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: rs104893894
rs104893894
IL7R
2 0.925 0.120 5 35871070 missense variant C/T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1057520020
rs1057520020
JAK3
1 1.000 0.120 19 17834908 missense variant C/T snv 0.700 1.000 1 2008 2008
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: rs118203993
rs118203993
ORAI1
2 0.925 0.120 12 121627018 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1264564157
rs1264564157
ZAP70
1 1.000 0.120 2 97737814 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1359688726
rs1359688726
ADA
1 1.000 0.120 20 44626514 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
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: rs1384988139
rs1384988139
RASSF1
1 1.000 0.120 3 50330655 missense variant G/A;C snv 0.010 < 0.001 1 2004 2004
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: rs1555844617
rs1555844617
ADA
2 0.925 0.120 20 44625650 frameshift variant -/T delins 0.700 1.000 1 2011 2011
dbSNP: rs193921149
rs193921149
IL2RG
1 1.000 0.120 X 71110946 frameshift variant A/- delins 0.010 1.000 1 2009 2009
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: rs751635016
rs751635016
ADA ; PKIG
1 1.000 0.120 20 44622588 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2009 2009
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: rs148508754
rs148508754
RAG2 ; IFTAP
4 0.882 0.120 11 36594065 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1555743321
rs1555743321
JAK3
1 1.000 0.120 19 17831775 frameshift variant TGACCAGCCGCAGGCTCTGGCG/- del 0.700 0
dbSNP: rs1561424886
rs1561424886
IL7R
1 1.000 0.120 5 35874447 splice acceptor variant A/G snv 0.700 0
dbSNP: rs193922348
rs193922348
IL2RG
2 1.000 0.120 X 71110295 missense variant A/C;G snv 0.700 0
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: rs193922364
rs193922364
JAK3
1 1.000 0.120 19 17842498 frameshift variant AG/- del 4.7E-06 0.700 0
dbSNP: rs193922462
rs193922462
RAG1 ; RAG2
1 1.000 0.120 11 36575907 missense variant C/T snv 2.8E-05 7.0E-05 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