rs104894288

Orientation

plus

Stabilized

plus

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

Make rs104894288(A;C)

Make rs104894288(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

36576246

Gene

RAG1

is a	snp
is	mentioned by
dbSNP	rs104894288
dbSNP (classic)	rs104894288
ClinGen	rs104894288
ebi	rs104894288
HLI	rs104894288
Exac	rs104894288
Gnomad	rs104894288
Varsome	rs104894288
LitVar	rs104894288
Map	rs104894288
PheGenI	rs104894288
Biobank	rs104894288
1000 genomes	rs104894288
hgdp	rs104894288
ensembl	rs104894288
geneview	rs104894288
scholar	rs104894288
google	rs104894288
pharmgkb	rs104894288
gwascentral	rs104894288
openSNP	rs104894288
23andMe	rs104894288
SNPshot	rs104894288
SNPdbe	rs104894288
MSV3d	rs104894288
GWAS Ctlg	rs104894288

Max Magnitude

0

OMIM	179615
Desc
Variant	0017
Related	also

ClinVar
Risk	rs104894288(C;C)
Alt	rs104894288(C;C)
Reference	Rs104894288(A;A)
Significance	Pathogenic
Disease	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion
Variation	info
Gene	RAG1
CLNDBN	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Reversed	0
HGVS	NC_000011.9:g.36597796A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014041.24,