rs121434548

Orientation

plus

Stabilized

plus

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

Make rs121434548(A;A)

Make rs121434548(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

42401755

Gene

CAPN3

is a	snp
is	mentioned by
dbSNP	rs121434548
dbSNP (classic)	rs121434548
ClinGen	rs121434548
ebi	rs121434548
HLI	rs121434548
Exac	rs121434548
Gnomad	rs121434548
Varsome	rs121434548
LitVar	rs121434548
Map	rs121434548
PheGenI	rs121434548
Biobank	rs121434548
1000 genomes	rs121434548
hgdp	rs121434548
ensembl	rs121434548
geneview	rs121434548
scholar	rs121434548
google	rs121434548
pharmgkb	rs121434548
gwascentral	rs121434548
openSNP	rs121434548
23andMe	rs121434548
SNPshot	rs121434548
SNPdbe	rs121434548
MSV3d	rs121434548
GWAS Ctlg	rs121434548

Max Magnitude

0

OMIM	114240
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121434548(A;A) rs121434548(C;C)
Alt	rs121434548(A;A) rs121434548(C;C)
Reference	Rs121434548(G;G)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy CAPN3-Related Disorders
Variation	info
Gene	CAPN3
CLNDBN	Limb-girdle muscular dystrophy, type 2A CAPN3-Related Disorders
Reversed	0
HGVS	NC_000015.9:g.42693953G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019189.30, RCV000388335.1,