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rs137852527

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852527(A;A)
Make rs137852527(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position120449086
GeneLAMP2
is asnp
is mentioned by
dbSNPrs137852527
ebirs137852527
HLIrs137852527
Exacrs137852527
Varsomers137852527
Maprs137852527
PheGenIrs137852527
hapmaprs137852527
1000 genomesrs137852527
hgdprs137852527
ensemblrs137852527
gopubmedrs137852527
geneviewrs137852527
scholarrs137852527
googlers137852527
pharmgkbrs137852527
gwascentralrs137852527
openSNPrs137852527
23andMers137852527
23andMe allrs137852527
SNP Nexus

SNPshotrs137852527
SNPdbers137852527
MSV3drs137852527
GWAS Ctlgrs137852527
Max Magnitude0
OMIM309060
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852527(A;A)
Alt rs137852527(A;A)
Reference rs137852527(T;T)
Significance Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119582941A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010655.4,