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rs876657648

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs876657648(G;G)
Make rs876657648(G;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position120442615
GeneLAMP2
is asnp
is mentioned by
dbSNPrs876657648
dbSNP (classic)rs876657648
ClinGenrs876657648
ebirs876657648
HLIrs876657648
Exacrs876657648
Gnomadrs876657648
Varsomers876657648
LitVarrs876657648
Maprs876657648
PheGenIrs876657648
Biobankrs876657648
1000 genomesrs876657648
hgdprs876657648
ensemblrs876657648
geneviewrs876657648
scholarrs876657648
googlers876657648
pharmgkbrs876657648
gwascentralrs876657648
openSNPrs876657648
23andMers876657648
SNPshotrs876657648
SNPdbers876657648
MSV3drs876657648
GWAS Ctlgrs876657648
Max Magnitude0
ClinVar
Risk rs876657648(G;G)
Alt rs876657648(G;G)
Reference Rs876657648(T;T)
Significance Probable-Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119576470A>C
CLNSRC
CLNACC RCV000219626.1,