rs397515400

Orientation

plus

Stabilized

plus

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

Make rs397515400(C;T)

Make rs397515400(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

131513331

Gene

POMT1

is a	snp
is	mentioned by
dbSNP	rs397515400
dbSNP (classic)	rs397515400
ClinGen	rs397515400
ebi	rs397515400
HLI	rs397515400
Exac	rs397515400
Gnomad	rs397515400
Varsome	rs397515400
LitVar	rs397515400
Map	rs397515400
PheGenI	rs397515400
Biobank	rs397515400
1000 genomes	rs397515400
hgdp	rs397515400
ensembl	rs397515400
geneview	rs397515400
scholar	rs397515400
google	rs397515400
pharmgkb	rs397515400
gwascentral	rs397515400
openSNP	rs397515400
23andMe	rs397515400
SNPshot	rs397515400
SNPdbe	rs397515400
MSV3d	rs397515400
GWAS Ctlg	rs397515400

Max Magnitude

0

ClinVar
Risk	rs397515400(T;T)
Alt	rs397515400(T;T)
Reference	Rs397515400(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.134388718C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032630.3,