RAG2, recombination activating 2, 5897

N. diseases: 207; N. variants: 44
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: rs148508754
rs148508754 		0.882 0.120 11 36594065 missense variant C/A;G snv 4.0E-06; 4.0E-06
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 1.000 4 2001 2012
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: rs121917895
rs121917895 		0.925 0.120 11 36594046 missense variant G/A;C snv 2.8E-05
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 1.000 1 2001 2001
dbSNP: rs121917896
rs121917896 		1.000 0.120 11 36593315 missense variant A/C snv
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 1.000 1 2001 2001
dbSNP: rs121917897
rs121917897 		0.882 0.120 11 36594054 missense variant T/C snv
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 1.000 1 2001 2001
dbSNP: rs121918574
rs121918574 		1.000 0.160 11 36593939 missense variant G/T snv
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 1.000 1 2008 2008
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: rs1564997121
rs1564997121 		1.000 0.120 11 36593699 missense variant C/A snv
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1564997563
rs1564997563 		11 36593983 missense variant G/T snv
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 1.000 1 2015 2015
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: rs762407838
rs762407838 		1.000 0.120 11 36593951 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 1.000 1 2011 2011
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: rs909264507
rs909264507 		1.000 0.120 11 36593976 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: rs1064793251
rs1064793251 		11 36593630 missense variant G/T snv
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 0
dbSNP: rs1479328926
rs1479328926 		11 36593586 missense variant A/C;G snv 4.0E-06 2.1E-05
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 0
dbSNP: rs1554947410
rs1554947410 		11 36594167 start lost A/G snv
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		Immune System Diseases 0.700 0
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