rs121917894

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121917894(A;A)

Make rs121917894(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

36593483

Gene	C11orf74, RAG2

is a	snp
is	mentioned by
dbSNP	rs121917894
dbSNP (classic)	rs121917894
ClinGen	rs121917894
ebi	rs121917894
HLI	rs121917894
Exac	rs121917894
Gnomad	rs121917894
Varsome	rs121917894
LitVar	rs121917894
Map	rs121917894
PheGenI	rs121917894
Biobank	rs121917894
1000 genomes	rs121917894
hgdp	rs121917894
ensembl	rs121917894
geneview	rs121917894
scholar	rs121917894
google	rs121917894
pharmgkb	rs121917894
gwascentral	rs121917894
openSNP	rs121917894
23andMe	rs121917894
SNPshot	rs121917894
SNPdbe	rs121917894
MSV3d	rs121917894
GWAS Ctlg	rs121917894

Max Magnitude

0

ClinVar
Risk	rs121917894(A;A) rs121917894(T;T)
Alt	rs121917894(A;A) rs121917894(T;T)
Reference	Rs121917894(G;G)
Significance	Pathogenic
Disease	Severe combined immunodeficiency Histiocytic medullary reticulosis
Variation	info
Gene	RAG2 C11orf74
CLNDBN	Severe combined immunodeficiency, B cell-negative Histiocytic medullary reticulosis
Reversed	1
HGVS	NC_000011.9:g.36615033C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014010.23, RCV000014011.24,