rs121434545

Orientation

plus

Stabilized

plus

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

Make rs121434545(C;T)

Make rs121434545(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

42384501

Gene	CAPN3, LOC105370794

is a	snp
is	mentioned by
dbSNP	rs121434545
dbSNP (classic)	rs121434545
ClinGen	rs121434545
ebi	rs121434545
HLI	rs121434545
Exac	rs121434545
Gnomad	rs121434545
Varsome	rs121434545
LitVar	rs121434545
Map	rs121434545
PheGenI	rs121434545
Biobank	rs121434545
1000 genomes	rs121434545
hgdp	rs121434545
ensembl	rs121434545
geneview	rs121434545
scholar	rs121434545
google	rs121434545
pharmgkb	rs121434545
gwascentral	rs121434545
openSNP	rs121434545
23andMe	rs121434545
SNPshot	rs121434545
SNPdbe	rs121434545
MSV3d	rs121434545
GWAS Ctlg	rs121434545

Max Magnitude

0

OMIM	114240
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121434545(A;A) rs121434545(T;T)
Alt	rs121434545(A;A) rs121434545(T;T)
Reference	Rs121434545(C;C)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	CAPN3
CLNDBN	Limb-girdle muscular dystrophy, type 2A
Reversed	0
HGVS	NC_000015.9:g.42676699C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019181.25,