RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
Disease: Primary immune deficiency disorder ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1204766339
rs1204766339 		1.000 0.120 11 36592794 missense variant T/C;G snv 4.0E-06
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 1.000 2 2012 2015
dbSNP: rs1564995627
rs1564995627 		1.000 0.120 11 36592812 missense variant A/T snv
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 1.000 2 2000 2002
dbSNP: rs1564995611
rs1564995611 		1.000 0.120 11 36592803 missense variant C/T snv
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs754413772
rs754413772 		1.000 0.120 11 36592849 missense variant T/G snv
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs773710101
rs773710101 		1.000 0.120 11 36592840 missense variant C/A;T snv 4.0E-06
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1564995660
rs1564995660 		11 36592831 missense variant G/C snv
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 0