Source: BEFREE ×
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: rs104894284
rs104894284
RAG1
1 1.000 0.120 11 36574986 missense variant G/A snv 1.2E-05 2.1E-05 0.810 0.857 1 1998 2011
dbSNP: rs773929270
rs773929270
RAG1
1 0.851 0.200 11 36573728 stop gained C/T snv 4.0E-06 7.0E-06 0.710 1.000 1 2015 2015
dbSNP: rs121917894
rs121917894
RAG2 ; IFTAP
4 0.851 0.160 11 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.040 1.000 4 2007 2019
dbSNP: rs104894287
rs104894287
RAG1 ; RAG2
4 0.827 0.200 11 36575825 missense variant C/G;T snv 3.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs111033618
rs111033618
IL2RG
4 0.925 0.120 X 71109321 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs193922641
rs193922641
IL7R
1 0.882 0.120 5 35867437 missense variant G/A snv 1.2E-05 4.2E-05 0.010 1.000 1 2014 2014