RAG2, recombination activating 2, 5897

N. diseases: 207; N. variants: 44
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE ×
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: rs104894282
rs104894282 		1.000 11 36575624 stop gained G/A;T snv 4.0E-06
CUI: C1867362
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE 		0.700 0
dbSNP: rs104894283
rs104894283 		1.000 11 36576118 stop gained T/G snv
CUI: C1867362
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE 		0.700 0
dbSNP: rs121917897
rs121917897 		0.882 0.120 11 36594054 missense variant T/C snv
CUI: C1867362
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE 		0.700 0
dbSNP: rs121918572
rs121918572 		0.851 0.160 11 36575630 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1867362
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE 		0.700 0
dbSNP: rs35691292
rs35691292 		1.000 11 36593525 missense variant G/A;T snv 3.3E-03; 1.6E-05
CUI: C1867362
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE 		0.700 0