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: 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: rs1555908409
rs1555908409
RAC2
7 0.851 0.160 22 37232842 missense variant C/T snv 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: 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: 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: rs193922575
rs193922575
RAG2 ; IFTAP
1 1.000 0.120 11 36593841 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs193922640
rs193922640
IL7R
1 1.000 0.120 5 35867354 frameshift variant -/ATATATTTCA delins 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: rs193922642
rs193922642
IL7R
1 1.000 0.120 5 35873481 missense variant A/C;G snv 4.8E-05 0.700 0
dbSNP: rs193922643
rs193922643
IL7R
1 1.000 0.120 5 35873558 stop gained CG/TA mnv 0.700 0
dbSNP: rs193922645
rs193922645
IL7R
1 1.000 0.120 5 35873586 missense variant G/T snv 0.700 0
dbSNP: rs193922647
rs193922647
IL7R
1 1.000 0.120 5 35875988 stop lost A/C snv 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: rs672601318
rs672601318
CD247
1 1.000 0.120 1 167518464 start lost A/G snv 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: 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: 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: 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