rs104894287

Orientation

plus

Stabilized

plus

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

Make rs104894287(C;T)

Make rs104894287(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

36575825

Gene

RAG1

is a	snp
is	mentioned by
dbSNP	rs104894287
dbSNP (classic)	rs104894287
ClinGen	rs104894287
ebi	rs104894287
HLI	rs104894287
Exac	rs104894287
Gnomad	rs104894287
Varsome	rs104894287
LitVar	rs104894287
Map	rs104894287
PheGenI	rs104894287
Biobank	rs104894287
1000 genomes	rs104894287
hgdp	rs104894287
ensembl	rs104894287
geneview	rs104894287
scholar	rs104894287
google	rs104894287
pharmgkb	rs104894287
gwascentral	rs104894287
openSNP	rs104894287
23andMe	rs104894287
SNPshot	rs104894287
SNPdbe	rs104894287
MSV3d	rs104894287
GWAS Ctlg	rs104894287

Max Magnitude

0

OMIM	179615
Desc
Variant	0016
Related	also

ClinVar
Risk	rs104894287(G;G) rs104894287(T;T)
Alt	rs104894287(G;G) rs104894287(T;T)
Reference	Rs104894287(C;C)
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.36597375C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014040.23,