rs119462984

Orientation

plus

Stabilized

plus

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

Make rs119462984(C;C)

Make rs119462984(C;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

131520175

Gene	LOC105376301, POMT1

is a	snp
is	mentioned by
dbSNP	rs119462984
dbSNP (classic)	rs119462984
ClinGen	rs119462984
ebi	rs119462984
HLI	rs119462984
Exac	rs119462984
Gnomad	rs119462984
Varsome	rs119462984
LitVar	rs119462984
Map	rs119462984
PheGenI	rs119462984
Biobank	rs119462984
1000 genomes	rs119462984
hgdp	rs119462984
ensembl	rs119462984
geneview	rs119462984
scholar	rs119462984
google	rs119462984
pharmgkb	rs119462984
gwascentral	rs119462984
openSNP	rs119462984
23andMe	rs119462984
SNPshot	rs119462984
SNPdbe	rs119462984
MSV3d	rs119462984
GWAS Ctlg	rs119462984

Max Magnitude

0

OMIM	607423
Desc
Variant	0007
Related	also

ClinVar
Risk	rs119462984(C;C)
Alt	rs119462984(C;C)
Reference	Rs119462984(G;G)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with mental retardation
Variation	info
Gene	POMT1
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Reversed	0
HGVS	NC_000009.11:g.134395562G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003398.3,