rs104894289

Orientation

plus

Stabilized

plus

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

Make rs104894289(C;T)

Make rs104894289(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

36574490

Gene

RAG1

is a	snp
is	mentioned by
dbSNP	rs104894289
dbSNP (classic)	rs104894289
ClinGen	rs104894289
ebi	rs104894289
HLI	rs104894289
Exac	rs104894289
Gnomad	rs104894289
Varsome	rs104894289
LitVar	rs104894289
Map	rs104894289
PheGenI	rs104894289
Biobank	rs104894289
1000 genomes	rs104894289
hgdp	rs104894289
ensembl	rs104894289
geneview	rs104894289
scholar	rs104894289
google	rs104894289
pharmgkb	rs104894289
gwascentral	rs104894289
openSNP	rs104894289
23andMe	rs104894289
SNPshot	rs104894289
SNPdbe	rs104894289
MSV3d	rs104894289
GWAS Ctlg	rs104894289

Max Magnitude

0

OMIM	179615
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894289(T;T)
Alt	rs104894289(T;T)
Reference	Rs104894289(C;C)
Significance	Pathogenic
Disease	Histiocytic medullary reticulosis not provided
Variation	info
Gene	RAG1
CLNDBN	Histiocytic medullary reticulosis not provided
Reversed	0
HGVS	NC_000011.9:g.36596040C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000014026.24, RCV000059556.1,

[PMID 10606976] Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.