rs794727190

Orientation

plus

Stabilized

plus

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

Make rs794727190(-;-)

Make rs794727190(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

131520152

Gene	LOC105376301, POMT1

is a	snp
is	mentioned by
dbSNP	rs794727190
dbSNP (classic)	rs794727190
ClinGen	rs794727190
ebi	rs794727190
HLI	rs794727190
Exac	rs794727190
Gnomad	rs794727190
Varsome	rs794727190
LitVar	rs794727190
Map	rs794727190
PheGenI	rs794727190
Biobank	rs794727190
1000 genomes	rs794727190
hgdp	rs794727190
ensembl	rs794727190
geneview	rs794727190
scholar	rs794727190
google	rs794727190
pharmgkb	rs794727190
gwascentral	rs794727190
openSNP	rs794727190
23andMe	rs794727190
SNPshot	rs794727190
SNPdbe	rs794727190
MSV3d	rs794727190
GWAS Ctlg	rs794727190

Max Magnitude

0

ClinVar
Risk	rs794727190(-;-)
Alt	rs794727190(-;-)
Reference	Rs794727190(C;C)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy-dystroglycanopathy
Variation	info
Gene	POMT1
CLNDBN	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Reversed	0
HGVS	NC_000009.11:g.134395539delC
CLNSRC
CLNACC	RCV000175198.1,