rs142336618

Orientation

plus

Stabilized

plus

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

Make rs142336618(C;G)

Make rs142336618(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

49723648

Gene

GMPPB

is a	snp
is	mentioned by
dbSNP	rs142336618
dbSNP (classic)	rs142336618
ClinGen	rs142336618
ebi	rs142336618
HLI	rs142336618
Exac	rs142336618
Gnomad	rs142336618
Varsome	rs142336618
LitVar	rs142336618
Map	rs142336618
PheGenI	rs142336618
Biobank	rs142336618
1000 genomes	rs142336618
hgdp	rs142336618
ensembl	rs142336618
geneview	rs142336618
scholar	rs142336618
google	rs142336618
pharmgkb	rs142336618
gwascentral	rs142336618
openSNP	rs142336618
23andMe	rs142336618
SNPshot	rs142336618
SNPdbe	rs142336618
MSV3d	rs142336618
GWAS Ctlg	rs142336618

Max Magnitude

0

ClinVar
Risk	rs142336618(G;G)
Alt	rs142336618(G;G)
Reference	Rs142336618(C;C)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (limb-girdle) not provided
Variation	info
Gene	GMPPB
CLNDBN	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 not provided
Reversed	0
HGVS	NC_000003.11:g.49761081C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000054440.7, RCV000444697.1,