rs121917897

Orientation

minus

Stabilized

minus

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

Make rs121917897(A;G)

Make rs121917897(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

36594054

Gene	C11orf74, RAG2

is a	snp
is	mentioned by
dbSNP	rs121917897
dbSNP (classic)	rs121917897
ClinGen	rs121917897
ebi	rs121917897
HLI	rs121917897
Exac	rs121917897
Gnomad	rs121917897
Varsome	rs121917897
LitVar	rs121917897
Map	rs121917897
PheGenI	rs121917897
Biobank	rs121917897
1000 genomes	rs121917897
hgdp	rs121917897
ensembl	rs121917897
geneview	rs121917897
scholar	rs121917897
google	rs121917897
pharmgkb	rs121917897
gwascentral	rs121917897
openSNP	rs121917897
23andMe	rs121917897
SNPshot	rs121917897
SNPdbe	rs121917897
MSV3d	rs121917897
GWAS Ctlg	rs121917897

Max Magnitude

0

ClinVar
Risk	rs121917897(G;G)
Alt	rs121917897(G;G)
Reference	Rs121917897(A;A)
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.36615604T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014017.24, RCV000014018.23,