rs28933392

Orientation

plus

Stabilized

plus

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

Make rs28933392(A;A)

Make rs28933392(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

36575468

Gene

RAG1

is a	snp
is	mentioned by
dbSNP	rs28933392
dbSNP (classic)	rs28933392
ClinGen	rs28933392
ebi	rs28933392
HLI	rs28933392
Exac	rs28933392
Gnomad	rs28933392
Varsome	rs28933392
LitVar	rs28933392
Map	rs28933392
PheGenI	rs28933392
Biobank	rs28933392
1000 genomes	rs28933392
hgdp	rs28933392
ensembl	rs28933392
geneview	rs28933392
scholar	rs28933392
google	rs28933392
pharmgkb	rs28933392
gwascentral	rs28933392
openSNP	rs28933392
23andMe	rs28933392
SNPshot	rs28933392
SNPdbe	rs28933392
MSV3d	rs28933392
GWAS Ctlg	rs28933392

Max Magnitude

0

OMIM	179615
Desc	SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
Variant	0001
Related	also

ClinVar
Risk	rs28933392(A;A)
Alt	rs28933392(A;A)
Reference	Rs28933392(G;G)
Significance	Pathogenic
Disease	Severe combined immunodeficiency
Variation	info
Gene	RAG1
CLNDBN	Severe combined immunodeficiency, B cell-negative
Reversed	0
HGVS	NC_000011.9:g.36597018G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014021.24,