rs267606703

Orientation

plus

Stabilized

plus

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

Make rs267606703(C;C)

Make rs267606703(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

42394306

Gene

CAPN3

is a	snp
is	mentioned by
dbSNP	rs267606703
dbSNP (classic)	rs267606703
ClinGen	rs267606703
ebi	rs267606703
HLI	rs267606703
Exac	rs267606703
Gnomad	rs267606703
Varsome	rs267606703
LitVar	rs267606703
Map	rs267606703
PheGenI	rs267606703
Biobank	rs267606703
1000 genomes	rs267606703
hgdp	rs267606703
ensembl	rs267606703
geneview	rs267606703
scholar	rs267606703
google	rs267606703
pharmgkb	rs267606703
gwascentral	rs267606703
openSNP	rs267606703
23andMe	rs267606703
SNPshot	rs267606703
SNPdbe	rs267606703
MSV3d	rs267606703
GWAS Ctlg	rs267606703

Max Magnitude

0

ClinVar
Risk	rs267606703(C;C)
Alt	rs267606703(C;C)
Reference	Rs267606703(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.42686504G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019186.29,