rs745738628

Orientation

plus

Stabilized

plus

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

Make rs745738628(C;C)

Make rs745738628(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

131522931

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs745738628
dbSNP (classic)	rs745738628
ClinGen	rs745738628
ebi	rs745738628
HLI	rs745738628
Exac	rs745738628
Gnomad	rs745738628
Varsome	rs745738628
LitVar	rs745738628
Map	rs745738628
PheGenI	rs745738628
Biobank	rs745738628
1000 genomes	rs745738628
hgdp	rs745738628
ensembl	rs745738628
geneview	rs745738628
scholar	rs745738628
google	rs745738628
pharmgkb	rs745738628
gwascentral	rs745738628
openSNP	rs745738628
23andMe	rs745738628
SNPshot	rs745738628
SNPdbe	rs745738628
MSV3d	rs745738628
GWAS Ctlg	rs745738628

Max Magnitude

0

ClinVar
Risk	rs745738628(C;C)
Alt	rs745738628(C;C)
Reference	Rs745738628(G;G)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	POMT1
CLNDBN	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed	0
HGVS	NC_000009.11:g.134398318G>C
CLNSRC
CLNACC	RCV000176087.1,