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: rs193922640
rs193922640
IL7R
1 1.000 0.120 5 35867354 frameshift variant -/ATATATTTCA delins 0.700 0
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: rs193922647
rs193922647
IL7R
1 1.000 0.120 5 35875988 stop lost A/C 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: rs193922642
rs193922642
IL7R
1 1.000 0.120 5 35873481 missense variant A/C;G snv 4.8E-05 0.700 0
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: rs1561424886
rs1561424886
IL7R
1 1.000 0.120 5 35874447 splice acceptor variant A/G snv 0.700 0
dbSNP: rs672601318
rs672601318
CD247
1 1.000 0.120 1 167518464 start lost A/G snv 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: 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: rs3218716
rs3218716
MYH7
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs121917894
rs121917894
RAG2 ; IFTAP
5 0.851 0.160 11 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2019 2019
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: rs104894287
rs104894287
RAG1 ; RAG2
5 0.827 0.200 11 36575825 missense variant C/G;T snv 3.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs193922464
rs193922464
RAG1
3 0.882 0.160 11 36573626 stop gained C/G;T snv 4.0E-06; 2.0E-05 0.700 0
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: rs118203993
rs118203993
ORAI1
2 0.925 0.120 12 121627018 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs121908723
rs121908723
ADA ; PKIG
4 0.851 0.240 20 44623039 missense variant C/T snv 1.2E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs121918572
rs121918572
RAG1 ; RAG2
4 0.851 0.160 11 36575630 missense variant C/T snv 4.0E-06 1.4E-05 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: rs1555908409
rs1555908409
RAC2
7 0.851 0.160 22 37232842 missense variant C/T snv 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: rs193922643
rs193922643
IL7R
1 1.000 0.120 5 35873558 stop gained CG/TA mnv 0.700 0