rs730880492

Orientation

minus

Stabilized

minus

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

Make rs730880492(-;CAACA)

Make rs730880492(CAACA;CAACA)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

120447993

Gene

LAMP2

is a	snp
is	mentioned by
dbSNP	rs730880492
dbSNP (classic)	rs730880492
ClinGen	rs730880492
ebi	rs730880492
HLI	rs730880492
Exac	rs730880492
Gnomad	rs730880492
Varsome	rs730880492
LitVar	rs730880492
Map	rs730880492
PheGenI	rs730880492
Biobank	rs730880492
1000 genomes	rs730880492
hgdp	rs730880492
ensembl	rs730880492
geneview	rs730880492
scholar	rs730880492
google	rs730880492
pharmgkb	rs730880492
gwascentral	rs730880492
openSNP	rs730880492
23andMe	rs730880492
SNPshot	rs730880492
SNPdbe	rs730880492
MSV3d	rs730880492
GWAS Ctlg	rs730880492

Max Magnitude

0

ClinVar
Risk	rs730880492(CAACA;CAACA)
Alt	rs730880492(CAACA;CAACA)
Reference	Rs730880492(-;-)
Significance	Pathogenic
Disease	Cardiomyopathy Danon disease
Variation	info
Gene	LAMP2
CLNDBN	Cardiomyopathy Danon disease
Reversed	1
HGVS	NC_000023.10:g.119581848_119581849insTGTTG
CLNSRC
CLNACC	RCV000157984.1,