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: rs748727021
rs748727021
RAG2 ; IFTAP
2 0.925 0.160 11 36593574 stop gained C/A snv 1.2E-05 7.0E-06 0.700 1.000 6 2001 2016
dbSNP: rs104894291
rs104894291
RAG1
3 0.882 0.160 11 36574491 missense variant G/A;T snv 1.6E-05 0.700 1.000 5 1998 2014
dbSNP: rs193922461
rs193922461
RAG1
4 0.882 0.160 11 36574870 missense variant G/T snv 1.1E-04 8.4E-05 0.700 1.000 5 2000 2015
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 1.000 4 2001 2012
dbSNP: rs199474686
rs199474686
RAG1
3 0.882 0.160 11 36574725 missense variant G/A snv 6.4E-05 7.0E-06 0.700 1.000 4 2001 2009
dbSNP: rs36001797
rs36001797
RAG2 ; IFTAP
3 0.882 0.160 11 36593886 missense variant C/G;T snv 3.2E-05 0.700 1.000 4 2000 2015
dbSNP: rs121918572
rs121918572
RAG1 ; RAG2
4 0.851 0.160 11 36575630 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 3 2007 2009
dbSNP: rs539590514
rs539590514
RAG1 ; RAG2
2 0.925 0.160 11 36576278 missense variant A/G snv 4.0E-06 9.1E-05 0.700 1.000 3 2001 2014
dbSNP: rs121918571
rs121918571
RAG1
3 0.882 0.160 11 36574287 missense variant G/A snv 7.0E-06 0.700 1.000 2 2007 2014
dbSNP: rs199474679
rs199474679
RAG1
2 0.925 0.120 11 36574601 missense variant G/A;T snv 0.700 1.000 2 1996 2009
dbSNP: rs199474680
rs199474680
RAG1
1 1.000 0.120 11 36575175 missense variant G/A snv 4.4E-05 7.0E-06 0.700 1.000 2 1996 2009
dbSNP: rs199474681
rs199474681
RAG1
2 0.925 0.120 11 36574981 missense variant G/C;T snv 4.0E-06 0.700 1.000 2 1996 2009
dbSNP: rs28933392
rs28933392
RAG1
2 0.925 0.120 11 36575468 missense variant G/A snv 2.0E-05 0.700 1.000 2 1996 2009
dbSNP: rs754502950
rs754502950
RAG1 ; RAG2
4 0.851 0.200 11 36575652 stop gained C/G snv 1.2E-05 2.8E-05 0.700 1.000 2 2001 2014
dbSNP: rs121917894
rs121917894
RAG2 ; IFTAP
5 0.851 0.160 11 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.700 1.000 1 1996 1996
dbSNP: rs121917895
rs121917895
RAG2 ; IFTAP
3 0.925 0.120 11 36594046 missense variant G/A;C snv 2.8E-05 0.700 1.000 1 2001 2001
dbSNP: rs121917897
rs121917897
RAG2 ; IFTAP
4 0.882 0.120 11 36594054 missense variant T/C snv 0.700 1.000 1 2001 2001
dbSNP: rs121918573
rs121918573
RAG1 ; RAG2 ; IFTAP
1 1.000 0.120 11 36592736 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 1 1996 1996
dbSNP: rs909264507
rs909264507
RAG2 ; IFTAP
2 1.000 0.120 11 36593976 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs104894285
rs104894285
RAG1
3 0.882 0.120 11 36574985 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs137852624
rs137852624
JAK3
3 0.882 0.120 19 17843786 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs137852625
rs137852625
JAK3
1 1.000 0.120 19 17837938 stop gained G/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs137852626
rs137852626
JAK3
1 1.000 0.120 19 17839585 stop gained G/A snv 0.700 0
dbSNP: rs137852627
rs137852627
JAK3
1 1.000 0.120 19 17844244 inframe deletion GGC/- del 0.700 0
dbSNP: rs141524540
rs141524540
RAG1
4 0.851 0.200 11 36574607 missense variant A/G snv 2.8E-05 2.8E-05 0.700 0