rs794727208

Orientation

plus

Stabilized

plus

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

Make rs794727208(C;T)

Make rs794727208(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

131521445

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs794727208
dbSNP (classic)	rs794727208
ClinGen	rs794727208
ebi	rs794727208
HLI	rs794727208
Exac	rs794727208
Gnomad	rs794727208
Varsome	rs794727208
LitVar	rs794727208
Map	rs794727208
PheGenI	rs794727208
Biobank	rs794727208
1000 genomes	rs794727208
hgdp	rs794727208
ensembl	rs794727208
geneview	rs794727208
scholar	rs794727208
google	rs794727208
pharmgkb	rs794727208
gwascentral	rs794727208
openSNP	rs794727208
23andMe	rs794727208
SNPshot	rs794727208
SNPdbe	rs794727208
MSV3d	rs794727208
GWAS Ctlg	rs794727208

Max Magnitude

0

ClinVar
Risk	rs794727208(T;T)
Alt	rs794727208(T;T)
Reference	Rs794727208(C;C)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	POMT1
CLNDBN	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
Reversed	0
HGVS	NC_000009.11:g.134396832C>T
CLNSRC
CLNACC	RCV000175325.1, RCV000175326.1,