rs142908436

Orientation

plus

Stabilized

plus

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

Make rs142908436(A;A)

Make rs142908436(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

49722057

Gene

GMPPB

is a	snp
is	mentioned by
dbSNP	rs142908436
dbSNP (classic)	rs142908436
ClinGen	rs142908436
ebi	rs142908436
HLI	rs142908436
Exac	rs142908436
Gnomad	rs142908436
Varsome	rs142908436
LitVar	rs142908436
Map	rs142908436
PheGenI	rs142908436
Biobank	rs142908436
1000 genomes	rs142908436
hgdp	rs142908436
ensembl	rs142908436
geneview	rs142908436
scholar	rs142908436
google	rs142908436
pharmgkb	rs142908436
gwascentral	rs142908436
openSNP	rs142908436
23andMe	rs142908436
SNPshot	rs142908436
SNPdbe	rs142908436
MSV3d	rs142908436
GWAS Ctlg	rs142908436

Max Magnitude

0

ClinVar
Risk	rs142908436(A;A) rs142908436(T;T)
Alt	rs142908436(A;A) rs142908436(T;T)
Reference	Rs142908436(G;G)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (limb-girdle)
Variation	info
Gene	GMPPB
CLNDBN	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
Reversed	0
HGVS	NC_000003.11:g.49759490G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000211126.1,