Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894290
rs104894290
RAG1 ; RAG2
1.000 0.120 11 36576039 missense variant A/G snv
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.800 1.000 6 1998 2011
dbSNP: rs104894287
rs104894287
RAG1 ; RAG2
0.827 0.200 11 36575825 missense variant C/G;T snv 3.6E-05
CUI: C1835931
Disease: ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		0.800 1.000 1 2005 2005
dbSNP: rs104894288
rs104894288
RAG1 ; RAG2
1.000 0.120 11 36576246 missense variant A/C snv
CUI: C1835931
Disease: ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		0.800 1.000 1 2005 2005
dbSNP: rs121917895
rs121917895
RAG2 ; IFTAP
0.925 0.120 11 36594046 missense variant G/A;C snv 2.8E-05
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.800 1.000 1 1998 2001
dbSNP: rs121917896
rs121917896
RAG2 ; IFTAP
1.000 0.120 11 36593315 missense variant A/C snv
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.800 1.000 1 1998 2001
dbSNP: rs121918569
rs121918569
RAG1 ; RAG2
1.000 0.160 11 36575637 missense variant G/A snv 7.0E-06
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		0.800 1.000 1 2008 2008
dbSNP: rs121918574
rs121918574
RAG2 ; IFTAP
1.000 0.160 11 36593939 missense variant G/T snv
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		0.800 1.000 1 2008 2008
dbSNP: rs121918575
rs121918575
RAG1 ; RAG2 ; IFTAP
1.000 0.160 11 36592817 missense variant C/G snv 3.6E-05 4.2E-05
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		0.800 1.000 1 2008 2008
dbSNP: rs150739647
rs150739647
RAG1 ; RAG2
0.925 0.120 11 36576228 missense variant G/A;C snv 4.4E-05; 4.0E-06
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.700 1.000 6 1998 2011
dbSNP: rs199474691
rs199474691
RAG1 ; RAG2
1.000 0.120 11 36575958 missense variant T/C;G snv 4.0E-06
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.700 1.000 6 1998 2011
dbSNP: rs121917894
rs121917894
RAG2 ; IFTAP
0.851 0.160 11 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06
CUI: C1832322
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		0.700 1.000 1 1996 1996
dbSNP: rs121918570
rs121918570
RAG1 ; RAG2
1.000 0.160 11 36576227 missense variant C/T snv 1.2E-05
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		0.700 1.000 1 2008 2008
dbSNP: rs121918573
rs121918573
RAG1 ; RAG2 ; IFTAP
1.000 0.120 11 36592736 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1832322
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		0.700 1.000 1 1996 1996