rs397514501

Orientation

plus

Stabilized

plus

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

Make rs397514501(A;G)

Make rs397514501(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

131508913

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs397514501
dbSNP (classic)	rs397514501
ClinGen	rs397514501
ebi	rs397514501
HLI	rs397514501
Exac	rs397514501
Gnomad	rs397514501
Varsome	rs397514501
LitVar	rs397514501
Map	rs397514501
PheGenI	rs397514501
Biobank	rs397514501
1000 genomes	rs397514501
hgdp	rs397514501
ensembl	rs397514501
geneview	rs397514501
scholar	rs397514501
google	rs397514501
pharmgkb	rs397514501
gwascentral	rs397514501
openSNP	rs397514501
23andMe	rs397514501
SNPshot	rs397514501
SNPdbe	rs397514501
MSV3d	rs397514501
GWAS Ctlg	rs397514501

Max Magnitude

0

ClinVar
Risk	rs397514501(G;G)
Alt	rs397514501(G;G)
Reference	Rs397514501(A;A)
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.134384300A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032629.2,