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: rs121918568
rs121918568
RAG1
1 1.000 0.160 11 36574244 missense variant C/T snv 0.800 1.000 1 2008 2008
dbSNP: rs121918569
rs121918569
RAG1 ; RAG2
1 1.000 0.160 11 36575637 missense variant G/A snv 7.0E-06 0.800 1.000 1 2008 2008
dbSNP: rs121918574
rs121918574
RAG2 ; IFTAP
2 1.000 0.160 11 36593939 missense variant G/T snv 0.800 1.000 1 2008 2008
dbSNP: rs121918575
rs121918575
RAG1 ; RAG2 ; IFTAP
1 1.000 0.160 11 36592817 missense variant C/G snv 3.6E-05 4.2E-05 0.800 1.000 1 2008 2008
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: 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: 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: rs104894286
rs104894286
RAG1
2 0.925 0.160 11 36575514 missense variant G/A snv 4.0E-05 2.1E-05 0.700 1.000 1 2008 2008
dbSNP: rs104894298
rs104894298
RAG1
2 0.925 0.160 11 36574823 missense variant C/T snv 0.700 1.000 1 2008 2008
dbSNP: rs121918570
rs121918570
RAG1 ; RAG2
1 1.000 0.160 11 36576227 missense variant C/T snv 1.2E-05 0.700 1.000 1 2008 2008
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
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: rs773929270
rs773929270
RAG1
4 0.851 0.200 11 36573728 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0