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: rs104894287
rs104894287
RAG1 ; RAG2
5 0.827 0.200 11 36575825 missense variant C/G;T snv 3.6E-05 0.800 1.000 1 2005 2005
dbSNP: rs104894288
rs104894288
RAG1 ; RAG2
1 1.000 0.120 11 36576246 missense variant A/C snv 0.800 1.000 1 2005 2005
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: rs754502950
rs754502950
RAG1 ; RAG2
4 0.851 0.200 11 36575652 stop gained C/G snv 1.2E-05 2.8E-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