rs875989851

Orientation

minus

Stabilized

minus

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

Make rs875989851(C;T)

Make rs875989851(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

49723066

Gene

GMPPB

is a	snp
is	mentioned by
dbSNP	rs875989851
dbSNP (classic)	rs875989851
ClinGen	rs875989851
ebi	rs875989851
HLI	rs875989851
Exac	rs875989851
Gnomad	rs875989851
Varsome	rs875989851
LitVar	rs875989851
Map	rs875989851
PheGenI	rs875989851
Biobank	rs875989851
1000 genomes	rs875989851
hgdp	rs875989851
ensembl	rs875989851
geneview	rs875989851
scholar	rs875989851
google	rs875989851
pharmgkb	rs875989851
gwascentral	rs875989851
openSNP	rs875989851
23andMe	rs875989851
SNPshot	rs875989851
SNPdbe	rs875989851
MSV3d	rs875989851
GWAS Ctlg	rs875989851

Max Magnitude

0

ClinVar
Risk	rs875989851(T;T)
Alt	rs875989851(T;T)
Reference	Rs875989851(C;C)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (limb-girdle)
Variation	info
Gene	GMPPB
CLNDBN	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
Reversed	1
HGVS	NC_000003.11:g.49760499G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000211125.1,