rs202160208

Orientation

plus

Stabilized

plus

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

Make rs202160208(C;T)

Make rs202160208(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

49722056

Gene

GMPPB

is a	snp
is	mentioned by
dbSNP	rs202160208
dbSNP (classic)	rs202160208
ClinGen	rs202160208
ebi	rs202160208
HLI	rs202160208
Exac	rs202160208
Gnomad	rs202160208
Varsome	rs202160208
LitVar	rs202160208
Map	rs202160208
PheGenI	rs202160208
Biobank	rs202160208
1000 genomes	rs202160208
hgdp	rs202160208
ensembl	rs202160208
geneview	rs202160208
scholar	rs202160208
google	rs202160208
pharmgkb	rs202160208
gwascentral	rs202160208
openSNP	rs202160208
23andMe	rs202160208
SNPshot	rs202160208
SNPdbe	rs202160208
MSV3d	rs202160208
GWAS Ctlg	rs202160208

Max Magnitude

0

ClinVar
Risk	rs202160208(T;T)
Alt	rs202160208(T;T)
Reference	Rs202160208(C;C)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) Muscular dystrophy-dystroglycanopathy (limb-girdle)
Variation	info
Gene	GMPPB
CLNDBN	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
Reversed	0
HGVS	NC_000003.11:g.49759489C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000054439.3, RCV000209893.1,