rs121434547

Orientation

plus

Stabilized

plus

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

Make rs121434547(C;T)

Make rs121434547(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

42392649

Gene

CAPN3

is a	snp
is	mentioned by
dbSNP	rs121434547
dbSNP (classic)	rs121434547
ClinGen	rs121434547
ebi	rs121434547
HLI	rs121434547
Exac	rs121434547
Gnomad	rs121434547
Varsome	rs121434547
LitVar	rs121434547
Map	rs121434547
PheGenI	rs121434547
Biobank	rs121434547
1000 genomes	rs121434547
hgdp	rs121434547
ensembl	rs121434547
geneview	rs121434547
scholar	rs121434547
google	rs121434547
pharmgkb	rs121434547
gwascentral	rs121434547
openSNP	rs121434547
23andMe	rs121434547
SNPshot	rs121434547
SNPdbe	rs121434547
MSV3d	rs121434547
GWAS Ctlg	rs121434547

Max Magnitude

0

OMIM	114240
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121434547(T;T)
Alt	rs121434547(T;T)
Reference	Rs121434547(C;C)
Significance	Other
Disease	Limb-girdle muscular dystrophy not provided
Variation	info
Gene	CAPN3
CLNDBN	Limb-girdle muscular dystrophy, type 2A not provided
Reversed	0
HGVS	NC_000015.9:g.42684847C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019183.30, RCV000417420.1,