rs774048743

Orientation

plus

Stabilized

plus

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

Make rs774048743(A;A)

Make rs774048743(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

42359938

Gene

CAPN3

is a	snp
is	mentioned by
dbSNP	rs774048743
dbSNP (classic)	rs774048743
ClinGen	rs774048743
ebi	rs774048743
HLI	rs774048743
Exac	rs774048743
Gnomad	rs774048743
Varsome	rs774048743
LitVar	rs774048743
Map	rs774048743
PheGenI	rs774048743
Biobank	rs774048743
1000 genomes	rs774048743
hgdp	rs774048743
ensembl	rs774048743
geneview	rs774048743
scholar	rs774048743
google	rs774048743
pharmgkb	rs774048743
gwascentral	rs774048743
openSNP	rs774048743
23andMe	rs774048743
SNPshot	rs774048743
SNPdbe	rs774048743
MSV3d	rs774048743
GWAS Ctlg	rs774048743

Max Magnitude

0

ClinVar
Risk	rs774048743(A;A)
Alt	rs774048743(A;A)
Reference	Rs774048743(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.42652136G>A
CLNSRC	Quest Diagnostics
CLNACC	RCV000201177.1,