rs104894291

Orientation

plus

Stabilized

plus

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

Make rs104894291(A;A)

Make rs104894291(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

36574491

Gene

RAG1

is a	snp
is	mentioned by
dbSNP	rs104894291
dbSNP (classic)	rs104894291
ClinGen	rs104894291
ebi	rs104894291
HLI	rs104894291
Exac	rs104894291
Gnomad	rs104894291
Varsome	rs104894291
LitVar	rs104894291
Map	rs104894291
PheGenI	rs104894291
Biobank	rs104894291
1000 genomes	rs104894291
hgdp	rs104894291
ensembl	rs104894291
geneview	rs104894291
scholar	rs104894291
google	rs104894291
pharmgkb	rs104894291
gwascentral	rs104894291
openSNP	rs104894291
23andMe	rs104894291
SNPshot	rs104894291
SNPdbe	rs104894291
MSV3d	rs104894291
GWAS Ctlg	rs104894291

Max Magnitude

0

OMIM	179615
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894291(A;A) rs104894291(T;T)
Alt	rs104894291(A;A) rs104894291(T;T)
Reference	Rs104894291(G;G)
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.36596041G>A; NC_000011.9:g.36596041G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000014028.25, RCV000059557.1,

[PMID 11133745] V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.