rs397516752

Orientation

minus

Stabilized

minus

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

Make rs397516752(C;C)

Make rs397516752(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

120442663

Gene

LAMP2

is a	snp
is	mentioned by
dbSNP	rs397516752
dbSNP (classic)	rs397516752
ClinGen	rs397516752
ebi	rs397516752
HLI	rs397516752
Exac	rs397516752
Gnomad	rs397516752
Varsome	rs397516752
LitVar	rs397516752
Map	rs397516752
PheGenI	rs397516752
Biobank	rs397516752
1000 genomes	rs397516752
hgdp	rs397516752
ensembl	rs397516752
geneview	rs397516752
scholar	rs397516752
google	rs397516752
pharmgkb	rs397516752
gwascentral	rs397516752
openSNP	rs397516752
23andMe	rs397516752
SNPshot	rs397516752
SNPdbe	rs397516752
MSV3d	rs397516752
GWAS Ctlg	rs397516752

Max Magnitude

0

ClinVar
Risk	rs397516752(C;C)
Alt	rs397516752(C;C)
Reference	Rs397516752(G;G)
Significance	Probable-Pathogenic
Disease	Danon disease
Variation	info
Gene	LAMP2
CLNDBN	Danon disease
Reversed	1
HGVS	NC_000023.10:g.119576518C>G
CLNSRC	ClinVar
CLNACC	RCV000037433.2,