rs863224956

Orientation

plus

Stabilized

plus

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

Make rs863224956(A;A)

Make rs863224956(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

42399641

Gene

CAPN3

is a	snp
is	mentioned by
dbSNP	rs863224956
dbSNP (classic)	rs863224956
ClinGen	rs863224956
ebi	rs863224956
HLI	rs863224956
Exac	rs863224956
Gnomad	rs863224956
Varsome	rs863224956
LitVar	rs863224956
Map	rs863224956
PheGenI	rs863224956
Biobank	rs863224956
1000 genomes	rs863224956
hgdp	rs863224956
ensembl	rs863224956
geneview	rs863224956
scholar	rs863224956
google	rs863224956
pharmgkb	rs863224956
gwascentral	rs863224956
openSNP	rs863224956
23andMe	rs863224956
SNPshot	rs863224956
SNPdbe	rs863224956
MSV3d	rs863224956
GWAS Ctlg	rs863224956

Max Magnitude

0

ClinVar
Risk	rs863224956(A;A)
Alt	rs863224956(A;A)
Reference	Rs863224956(G;G)
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.42691839G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000201031.2,