rs121434546

Orientation

plus

Stabilized

plus

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

Make rs121434546(C;T)

Make rs121434546(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

42360062

Gene

CAPN3

is a	snp
is	mentioned by
dbSNP	rs121434546
dbSNP (classic)	rs121434546
ClinGen	rs121434546
ebi	rs121434546
HLI	rs121434546
Exac	rs121434546
Gnomad	rs121434546
Varsome	rs121434546
LitVar	rs121434546
Map	rs121434546
PheGenI	rs121434546
Biobank	rs121434546
1000 genomes	rs121434546
hgdp	rs121434546
ensembl	rs121434546
geneview	rs121434546
scholar	rs121434546
google	rs121434546
pharmgkb	rs121434546
gwascentral	rs121434546
openSNP	rs121434546
23andMe	rs121434546
SNPshot	rs121434546
SNPdbe	rs121434546
MSV3d	rs121434546
GWAS Ctlg	rs121434546

Max Magnitude

0

OMIM	114240
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121434546(T;T)
Alt	rs121434546(T;T)
Reference	Rs121434546(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.42652260C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019182.29,