rs121918573

Orientation

minus

Stabilized

minus

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

Make rs121918573(A;A)

Make rs121918573(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

36592736

Gene	C11orf74, RAG2

is a	snp
is	mentioned by
dbSNP	rs121918573
dbSNP (classic)	rs121918573
ClinGen	rs121918573
ebi	rs121918573
HLI	rs121918573
Exac	rs121918573
Gnomad	rs121918573
Varsome	rs121918573
LitVar	rs121918573
Map	rs121918573
PheGenI	rs121918573
Biobank	rs121918573
1000 genomes	rs121918573
hgdp	rs121918573
ensembl	rs121918573
geneview	rs121918573
scholar	rs121918573
google	rs121918573
pharmgkb	rs121918573
gwascentral	rs121918573
openSNP	rs121918573
23andMe	rs121918573
SNPshot	rs121918573
SNPdbe	rs121918573
MSV3d	rs121918573
GWAS Ctlg	rs121918573

Max Magnitude

0

OMIM	179616
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918573(A;A)
Alt	rs121918573(A;A)
Reference	Rs121918573(G;G)
Significance	Pathogenic
Disease	Severe combined immunodeficiency
Variation	info
Gene	RAG2 C11orf74
CLNDBN	Severe combined immunodeficiency, B cell-negative
Reversed	1
HGVS	NC_000011.9:g.36614286C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014009.17,