rs104894285

Orientation

plus

Stabilized

plus

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

Make rs104894285(C;T)

Make rs104894285(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

36574985

Gene

RAG1

is a	snp
is	mentioned by
dbSNP	rs104894285
dbSNP (classic)	rs104894285
ClinGen	rs104894285
ebi	rs104894285
HLI	rs104894285
Exac	rs104894285
Gnomad	rs104894285
Varsome	rs104894285
LitVar	rs104894285
Map	rs104894285
PheGenI	rs104894285
Biobank	rs104894285
1000 genomes	rs104894285
hgdp	rs104894285
ensembl	rs104894285
geneview	rs104894285
scholar	rs104894285
google	rs104894285
pharmgkb	rs104894285
gwascentral	rs104894285
openSNP	rs104894285
23andMe	rs104894285
SNPshot	rs104894285
SNPdbe	rs104894285
MSV3d	rs104894285
GWAS Ctlg	rs104894285

Max Magnitude

0

OMIM	179615
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104894285(T;T)
Alt	rs104894285(T;T)
Reference	Rs104894285(C;C)
Significance	Pathogenic
Disease	Histiocytic medullary reticulosis Severe combined immunodeficiency
Variation	info
Gene	RAG1
CLNDBN	Histiocytic medullary reticulosis Severe combined immunodeficiency, B cell-negative
Reversed	0
HGVS	NC_000011.9:g.36596535C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014030.24, RCV000014031.24,