rs267606962

Orientation

minus

Stabilized

minus

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

Make rs267606962(C;C)

Make rs267606962(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46189539

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs267606962
dbSNP (classic)	rs267606962
ClinGen	rs267606962
ebi	rs267606962
HLI	rs267606962
Exac	rs267606962
Gnomad	rs267606962
Varsome	rs267606962
LitVar	rs267606962
Map	rs267606962
PheGenI	rs267606962
Biobank	rs267606962
1000 genomes	rs267606962
hgdp	rs267606962
ensembl	rs267606962
geneview	rs267606962
scholar	rs267606962
google	rs267606962
pharmgkb	rs267606962
gwascentral	rs267606962
openSNP	rs267606962
23andMe	rs267606962
SNPshot	rs267606962
SNPdbe	rs267606962
MSV3d	rs267606962
GWAS Ctlg	rs267606962

Max Magnitude

0

ClinVar
Risk	rs267606962(A;A) rs267606962(C;C)
Alt	rs267606962(A;A) rs267606962(C;C)
Reference	Rs267606962(G;G)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with mental retardation Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46655211C>G; NC_000001.10:g.46655211C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004205.4, RCV000050002.2,

[PMID 17906881] Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

[PMID 20215985] Muscle-Eye-Brain disease.