rs119462982

Orientation

plus

Stabilized

plus

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

Make rs119462982(C;C)

Make rs119462982(C;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

131509801

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs119462982
dbSNP (classic)	rs119462982
ClinGen	rs119462982
ebi	rs119462982
HLI	rs119462982
Exac	rs119462982
Gnomad	rs119462982
Varsome	rs119462982
LitVar	rs119462982
Map	rs119462982
PheGenI	rs119462982
Biobank	rs119462982
1000 genomes	rs119462982
hgdp	rs119462982
ensembl	rs119462982
geneview	rs119462982
scholar	rs119462982
google	rs119462982
pharmgkb	rs119462982
gwascentral	rs119462982
openSNP	rs119462982
23andMe	rs119462982
SNPshot	rs119462982
SNPdbe	rs119462982
MSV3d	rs119462982
GWAS Ctlg	rs119462982

Max Magnitude

0

OMIM	607423
Desc
Variant	0005
Related	also

ClinVar
Risk	rs119462982(C;C)
Alt	rs119462982(C;C)
Reference	Rs119462982(G;G)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy-dystroglycanopathy Congenital muscular dystrophy-dystroglycanopathy with mental retardation Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	POMT1
CLNDBN	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed	0
HGVS	NC_000009.11:g.134385188G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003399.3, RCV000179928.1, RCV000179929.1,