rs119462987

Orientation

plus

Stabilized

plus

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

Make rs119462987(A;A)

Make rs119462987(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

131522160

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs119462987
dbSNP (classic)	rs119462987
ClinGen	rs119462987
ebi	rs119462987
HLI	rs119462987
Exac	rs119462987
Gnomad	rs119462987
Varsome	rs119462987
LitVar	rs119462987
Map	rs119462987
PheGenI	rs119462987
Biobank	rs119462987
1000 genomes	rs119462987
hgdp	rs119462987
ensembl	rs119462987
geneview	rs119462987
scholar	rs119462987
google	rs119462987
pharmgkb	rs119462987
gwascentral	rs119462987
openSNP	rs119462987
23andMe	rs119462987
SNPshot	rs119462987
SNPdbe	rs119462987
MSV3d	rs119462987
GWAS Ctlg	rs119462987

Max Magnitude

0

OMIM	607423
Desc
Variant	0013
Related	also

ClinVar
Risk	rs119462987(A;A)
Alt	rs119462987(A;A)
Reference	Rs119462987(G;G)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with mental retardation Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) Limb-girdle muscular dystrophy-dystroglycanopathy not provided
Variation	info
Gene	POMT1
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 not provided
Reversed	0
HGVS	NC_000009.11:g.134397547G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003406.5, RCV000295306.1, RCV000352341.1, RCV000414180.1,