rs397509425

Orientation

minus

Stabilized

minus

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

Make rs397509425(C;T)

Make rs397509425(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

49722604

Gene

GMPPB

is a	snp
is	mentioned by
dbSNP	rs397509425
dbSNP (classic)	rs397509425
ClinGen	rs397509425
ebi	rs397509425
HLI	rs397509425
Exac	rs397509425
Gnomad	rs397509425
Varsome	rs397509425
LitVar	rs397509425
Map	rs397509425
PheGenI	rs397509425
Biobank	rs397509425
1000 genomes	rs397509425
hgdp	rs397509425
ensembl	rs397509425
geneview	rs397509425
scholar	rs397509425
google	rs397509425
pharmgkb	rs397509425
gwascentral	rs397509425
openSNP	rs397509425
23andMe	rs397509425
SNPshot	rs397509425
SNPdbe	rs397509425
MSV3d	rs397509425
GWAS Ctlg	rs397509425

Max Magnitude

0

ClinVar
Risk	rs397509425(T;T)
Alt	rs397509425(T;T)
Reference	Rs397509425(C;C)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) Muscular dystrophy-dystroglycanopathy (limb-girdle) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	GMPPB
CLNDBN	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
Reversed	1
HGVS	NC_000003.11:g.49760037G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000054436.4, RCV000054437.4, RCV000200261.1,