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: 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: 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: rs1384988139
rs1384988139
RASSF1
1 1.000 0.120 3 50330655 missense variant G/A;C snv 0.010 < 0.001 1 2004 2004
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: 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: 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: 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: rs1561424886
rs1561424886
IL7R
1 1.000 0.120 5 35874447 splice acceptor variant A/G snv 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: 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: 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: 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: 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: 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: 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: rs118203993
rs118203993
ORAI1
2 0.925 0.120 12 121627018 missense variant C/T snv 0.010 1.000 1 2009 2009