rs104894286

Orientation

plus

Stabilized

plus

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

Make rs104894286(A;A)

Make rs104894286(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

36575514

Gene

RAG1

is a	snp
is	mentioned by
dbSNP	rs104894286
dbSNP (classic)	rs104894286
ClinGen	rs104894286
ebi	rs104894286
HLI	rs104894286
Exac	rs104894286
Gnomad	rs104894286
Varsome	rs104894286
LitVar	rs104894286
Map	rs104894286
PheGenI	rs104894286
Biobank	rs104894286
1000 genomes	rs104894286
hgdp	rs104894286
ensembl	rs104894286
geneview	rs104894286
scholar	rs104894286
google	rs104894286
pharmgkb	rs104894286
gwascentral	rs104894286
openSNP	rs104894286
23andMe	rs104894286
SNPshot	rs104894286
SNPdbe	rs104894286
MSV3d	rs104894286
GWAS Ctlg	rs104894286

Max Magnitude

0

OMIM	179615
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104894286(A;A)
Alt	rs104894286(A;A)
Reference	Rs104894286(G;G)
Significance	Pathogenic
Disease	Histiocytic medullary reticulosis Combined cellular and humoral immune defects with granulomas
Variation	info
Gene	RAG1
CLNDBN	Histiocytic medullary reticulosis Combined cellular and humoral immune defects with granulomas
Reversed	0
HGVS	NC_000011.9:g.36597064G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014032.24, RCV000014043.25,