rs193922649

Orientation

minus

Stabilized

minus

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

Make rs193922649(-;-)

Make rs193922649(-;A)

Reference

GRCh38 38.1/141

Chromosome

X

Position

120449063

Gene

LAMP2

is a	snp
is	mentioned by
dbSNP	rs193922649
dbSNP (classic)	rs193922649
ClinGen	rs193922649
ebi	rs193922649
HLI	rs193922649
Exac	rs193922649
Gnomad	rs193922649
Varsome	rs193922649
LitVar	rs193922649
Map	rs193922649
PheGenI	rs193922649
Biobank	rs193922649
1000 genomes	rs193922649
hgdp	rs193922649
ensembl	rs193922649
geneview	rs193922649
scholar	rs193922649
google	rs193922649
pharmgkb	rs193922649
gwascentral	rs193922649
openSNP	rs193922649
23andMe	rs193922649
SNPshot	rs193922649
SNPdbe	rs193922649
MSV3d	rs193922649
GWAS Ctlg	rs193922649

Max Magnitude

0

ClinVar
Risk	rs193922649(-;-)
Alt	rs193922649(-;-)
Reference	Rs193922649(A;A)
Significance	Probable-Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy Danon disease
Variation	info
Gene	LAMP2
CLNDBN	Primary familial hypertrophic cardiomyopathy Danon disease
Reversed	1
HGVS	NC_000023.10:g.119582918delT
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030113.1, RCV000037418.2,