rs121434544

Orientation

plus

Stabilized

plus

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

Make rs121434544(A;A)

Make rs121434544(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

42402972

Gene

CAPN3

is a	snp
is	mentioned by
dbSNP	rs121434544
dbSNP (classic)	rs121434544
ClinGen	rs121434544
ebi	rs121434544
HLI	rs121434544
Exac	rs121434544
Gnomad	rs121434544
Varsome	rs121434544
LitVar	rs121434544
Map	rs121434544
PheGenI	rs121434544
Biobank	rs121434544
1000 genomes	rs121434544
hgdp	rs121434544
ensembl	rs121434544
geneview	rs121434544
scholar	rs121434544
google	rs121434544
pharmgkb	rs121434544
gwascentral	rs121434544
openSNP	rs121434544
23andMe	rs121434544
SNPshot	rs121434544
SNPdbe	rs121434544
MSV3d	rs121434544
GWAS Ctlg	rs121434544

Max Magnitude

0

OMIM	114240
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434544(A;A) rs121434544(C;C) rs121434544(T;T)
Alt	rs121434544(A;A) rs121434544(C;C) rs121434544(T;T)
Reference	Rs121434544(G;G)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy not specified
Variation	info
Gene	CAPN3
CLNDBN	Limb-girdle muscular dystrophy, type 2A not specified
Reversed	0
HGVS	NC_000015.9:g.42695170G>A; NC_000015.9:g.42695170G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019180.26, RCV000270366.1,