rs397516743

Orientation

minus

Stabilized

minus

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

Make rs397516743(A;G)

Make rs397516743(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

120456771

Gene

LAMP2

is a	snp
is	mentioned by
dbSNP	rs397516743
dbSNP (classic)	rs397516743
ClinGen	rs397516743
ebi	rs397516743
HLI	rs397516743
Exac	rs397516743
Gnomad	rs397516743
Varsome	rs397516743
LitVar	rs397516743
Map	rs397516743
PheGenI	rs397516743
Biobank	rs397516743
1000 genomes	rs397516743
hgdp	rs397516743
ensembl	rs397516743
geneview	rs397516743
scholar	rs397516743
google	rs397516743
pharmgkb	rs397516743
gwascentral	rs397516743
openSNP	rs397516743
23andMe	rs397516743
SNPshot	rs397516743
SNPdbe	rs397516743
MSV3d	rs397516743
GWAS Ctlg	rs397516743

Max Magnitude

0

ClinVar
Risk	rs397516743(G;G)
Alt	rs397516743(G;G)
Reference	Rs397516743(A;A)
Significance	Pathogenic
Disease	Danon disease
Variation	info
Gene	LAMP2
CLNDBN	Danon disease
Reversed	1
HGVS	NC_000023.10:g.119590626T>C
CLNSRC	ClinVar
CLNACC	RCV000037416.2,