rs193922574

Orientation

minus

Stabilized

minus

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

Make rs193922574(C;T)

Make rs193922574(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

36593952

Gene	C11orf74, RAG2

is a	snp
is	mentioned by
dbSNP	rs193922574
dbSNP (classic)	rs193922574
ClinGen	rs193922574
ebi	rs193922574
HLI	rs193922574
Exac	rs193922574
Gnomad	rs193922574
Varsome	rs193922574
LitVar	rs193922574
Map	rs193922574
PheGenI	rs193922574
Biobank	rs193922574
1000 genomes	rs193922574
hgdp	rs193922574
ensembl	rs193922574
geneview	rs193922574
scholar	rs193922574
google	rs193922574
pharmgkb	rs193922574
gwascentral	rs193922574
openSNP	rs193922574
23andMe	rs193922574
SNPshot	rs193922574
SNPdbe	rs193922574
MSV3d	rs193922574
GWAS Ctlg	rs193922574

Max Magnitude

0

ClinVar
Risk	rs193922574(T;T)
Alt	rs193922574(T;T)
Reference	Rs193922574(C;C)
Significance	Probable-Pathogenic
Disease	Severe combined immunodeficiency disease
Variation	info
Gene	RAG2 C11orf74
CLNDBN	Severe combined immunodeficiency disease
Reversed	1
HGVS	NC_000011.9:g.36615502G>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030398.1,

[PMID 20603253] Why newborn screening for severe combined immunodeficiency is essential: a case report.