rs730882052

Orientation

plus

Stabilized

plus

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

Make rs730882052(A;G)

Make rs730882052(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

160195976

Gene

CASQ1

is a	snp
is	mentioned by
dbSNP	rs730882052
dbSNP (classic)	rs730882052
ClinGen	rs730882052
ebi	rs730882052
HLI	rs730882052
Exac	rs730882052
Gnomad	rs730882052
Varsome	rs730882052
LitVar	rs730882052
Map	rs730882052
PheGenI	rs730882052
Biobank	rs730882052
1000 genomes	rs730882052
hgdp	rs730882052
ensembl	rs730882052
geneview	rs730882052
scholar	rs730882052
google	rs730882052
pharmgkb	rs730882052
gwascentral	rs730882052
openSNP	rs730882052
23andMe	rs730882052
SNPshot	rs730882052
SNPdbe	rs730882052
MSV3d	rs730882052
GWAS Ctlg	rs730882052

Max Magnitude

0

ClinVar
Risk	rs730882052(G;G)
Alt	rs730882052(G;G)
Reference	Rs730882052(A;A)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	CASQ1
CLNDBN	Myopathy, vacuolar, with casq1 aggregates
Reversed	0
HGVS	NC_000001.10:g.160165766A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000161143.4,