rs398124245

Orientation

plus

Stabilized

plus

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

Make rs398124245(-;G)

Make rs398124245(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

131523029

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs398124245
dbSNP (classic)	rs398124245
ClinGen	rs398124245
ebi	rs398124245
HLI	rs398124245
Exac	rs398124245
Gnomad	rs398124245
Varsome	rs398124245
LitVar	rs398124245
Map	rs398124245
PheGenI	rs398124245
Biobank	rs398124245
1000 genomes	rs398124245
hgdp	rs398124245
ensembl	rs398124245
geneview	rs398124245
scholar	rs398124245
google	rs398124245
pharmgkb	rs398124245
gwascentral	rs398124245
openSNP	rs398124245
23andMe	rs398124245
SNPshot	rs398124245
SNPdbe	rs398124245
MSV3d	rs398124245
GWAS Ctlg	rs398124245

Max Magnitude

0

ClinVar
Risk	rs398124245(G;G)
Alt	rs398124245(G;G)
Reference	Rs398124245(-;-)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) not provided
Variation	info
Gene	POMT1
CLNDBN	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 not provided
Reversed	0
HGVS	NC_000009.11:g.134398416dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003411.7, RCV000081487.4,