rs863224959

Orientation

plus

Stabilized

plus

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

Make rs863224959(C;T)

Make rs863224959(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

42402971

Gene

CAPN3

is a	snp
is	mentioned by
dbSNP	rs863224959
dbSNP (classic)	rs863224959
ClinGen	rs863224959
ebi	rs863224959
HLI	rs863224959
Exac	rs863224959
Gnomad	rs863224959
Varsome	rs863224959
LitVar	rs863224959
Map	rs863224959
PheGenI	rs863224959
Biobank	rs863224959
1000 genomes	rs863224959
hgdp	rs863224959
ensembl	rs863224959
geneview	rs863224959
scholar	rs863224959
google	rs863224959
pharmgkb	rs863224959
gwascentral	rs863224959
openSNP	rs863224959
23andMe	rs863224959
SNPshot	rs863224959
SNPdbe	rs863224959
MSV3d	rs863224959
GWAS Ctlg	rs863224959

Max Magnitude

0

ClinVar
Risk	rs863224959(T;T)
Alt	rs863224959(T;T)
Reference	Rs863224959(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.42695169C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000201202.2,