rs863224957

Orientation

plus

Stabilized

plus

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

Make rs863224957(C;T)

Make rs863224957(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

42401751

Gene

CAPN3

is a	snp
is	mentioned by
dbSNP	rs863224957
dbSNP (classic)	rs863224957
ClinGen	rs863224957
ebi	rs863224957
HLI	rs863224957
Exac	rs863224957
Gnomad	rs863224957
Varsome	rs863224957
LitVar	rs863224957
Map	rs863224957
PheGenI	rs863224957
Biobank	rs863224957
1000 genomes	rs863224957
hgdp	rs863224957
ensembl	rs863224957
geneview	rs863224957
scholar	rs863224957
google	rs863224957
pharmgkb	rs863224957
gwascentral	rs863224957
openSNP	rs863224957
23andMe	rs863224957
SNPshot	rs863224957
SNPdbe	rs863224957
MSV3d	rs863224957
GWAS Ctlg	rs863224957

Max Magnitude

0

ClinVar
Risk	rs863224957(T;T)
Alt	rs863224957(T;T)
Reference	Rs863224957(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.42693949C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000201199.2,