rs200056620

Orientation

plus

Stabilized

plus

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

Make rs200056620(C;T)

Make rs200056620(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

131513243

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs200056620
dbSNP (classic)	rs200056620
ClinGen	rs200056620
ebi	rs200056620
HLI	rs200056620
Exac	rs200056620
Gnomad	rs200056620
Varsome	rs200056620
LitVar	rs200056620
Map	rs200056620
PheGenI	rs200056620
Biobank	rs200056620
1000 genomes	rs200056620
hgdp	rs200056620
ensembl	rs200056620
geneview	rs200056620
scholar	rs200056620
google	rs200056620
pharmgkb	rs200056620
gwascentral	rs200056620
openSNP	rs200056620
23andMe	rs200056620
SNPshot	rs200056620
SNPdbe	rs200056620
MSV3d	rs200056620
GWAS Ctlg	rs200056620

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs200056620(T;T)
Alt	rs200056620(T;T)
Reference	Rs200056620(C;C)
Significance	Pathogenic
Disease	not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	POMT1
CLNDBN	not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed	0
HGVS	NC_000009.11:g.134388630C>T
CLNSRC	HGMD
CLNACC	RCV000081477.5, RCV000174358.1,