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: rs104893674
rs104893674
ZAP70
2 0.925 0.120 2 97737828 missense variant C/A snv 0.700 0
dbSNP: rs137853201
rs137853201
ZAP70
2 0.925 0.120 2 97737577 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs730880318
rs730880318
ZAP70
1 1.000 0.120 2 97737984 non coding transcript exon variant G/A snv 4.0E-06 0.700 0
dbSNP: rs730880319
rs730880319
ZAP70
1 1.000 0.120 2 97737783 frameshift variant AAGTGGTACGCAC/- delins 0.700 0
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: rs111033618
rs111033618
IL2RG
4 0.925 0.120 X 71109321 missense variant G/A snv 0.010 1.000 1 2014 2014