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rs104894858

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Familial hypertrophic cardiomyopathy (possible)
(G;G) 0 common in clinvar


Make rs104894858(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position120442599
GeneLAMP2
is asnp
is mentioned by
dbSNPrs104894858
dbSNP (classic)rs104894858
ClinGenrs104894858
ebirs104894858
HLIrs104894858
Exacrs104894858
Gnomadrs104894858
Varsomers104894858
LitVarrs104894858
Maprs104894858
PheGenIrs104894858
Biobankrs104894858
1000 genomesrs104894858
hgdprs104894858
ensemblrs104894858
geneviewrs104894858
scholarrs104894858
googlers104894858
pharmgkbrs104894858
gwascentralrs104894858
openSNPrs104894858
23andMers104894858
SNPshotrs104894858
SNPdbers104894858
MSV3drs104894858
GWAS Ctlgrs104894858
Max Magnitude6

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].

OMIM309060
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894858(A;A)
Alt rs104894858(A;A)
Reference Rs104894858(G;G)
Significance Pathogenic
Disease Danon disease not provided
Variation info
Gene LAMP2
CLNDBN Danon disease not provided
Reversed 1
HGVS NC_000023.10:g.119576454C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010663.3, RCV000157981.1,