rs193922464

Orientation

plus

Stabilized

plus

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

Make rs193922464(C;T)

Make rs193922464(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

36573626

Gene

RAG1

is a	snp
is	mentioned by
dbSNP	rs193922464
dbSNP (classic)	rs193922464
ClinGen	rs193922464
ebi	rs193922464
HLI	rs193922464
Exac	rs193922464
Gnomad	rs193922464
Varsome	rs193922464
LitVar	rs193922464
Map	rs193922464
PheGenI	rs193922464
Biobank	rs193922464
1000 genomes	rs193922464
hgdp	rs193922464
ensembl	rs193922464
geneview	rs193922464
scholar	rs193922464
google	rs193922464
pharmgkb	rs193922464
gwascentral	rs193922464
openSNP	rs193922464
23andMe	rs193922464
SNPshot	rs193922464
SNPdbe	rs193922464
MSV3d	rs193922464
GWAS Ctlg	rs193922464

Max Magnitude

0

ClinVar
Risk	rs193922464(G;G) rs193922464(T;T)
Alt	rs193922464(G;G) rs193922464(T;T)
Reference	Rs193922464(C;C)
Significance	Pathogenic
Disease	Severe combined immunodeficiency disease Severe immunodeficiency
Variation	info
Gene	RAG1
CLNDBN	Severe combined immunodeficiency disease Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
Reversed	0
HGVS	NC_000011.9:g.36595176C>T
CLNSRC	ClinVar
CLNACC	RCV000030393.1, RCV000397265.1,