rs797045427

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(D;D)	0	common genotype

Make rs797045427(-;CC)

Make rs797045427(CC;CC)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

42384501

Gene	CAPN3, LOC105370794

is a	snp
is	mentioned by
dbSNP	rs797045427
dbSNP (classic)	rs797045427
ClinGen	rs797045427
ebi	rs797045427
HLI	rs797045427
Exac	rs797045427
Gnomad	rs797045427
Varsome	rs797045427
LitVar	rs797045427
Map	rs797045427
PheGenI	rs797045427
Biobank	rs797045427
1000 genomes	rs797045427
hgdp	rs797045427
ensembl	rs797045427
geneview	rs797045427
scholar	rs797045427
google	rs797045427
pharmgkb	rs797045427
gwascentral	rs797045427
openSNP	rs797045427
23andMe	rs797045427
SNPshot	rs797045427
SNPdbe	rs797045427
MSV3d	rs797045427
GWAS Ctlg	rs797045427

Max Magnitude

0

ClinVar
Risk	rs797045427(CC;CC)
Alt	rs797045427(CC;CC)
Reference	Rs797045427(-;-)
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.42676698_42676699dupCC
CLNSRC
CLNACC	RCV000192648.2,