Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922649

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922649(-;-)
Make rs193922649(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position120449063
GeneLAMP2
is asnp
is mentioned by
dbSNPrs193922649
ebirs193922649
HLIrs193922649
Exacrs193922649
Varsomers193922649
Maprs193922649
PheGenIrs193922649
hapmaprs193922649
1000 genomesrs193922649
hgdprs193922649
ensemblrs193922649
gopubmedrs193922649
geneviewrs193922649
scholarrs193922649
googlers193922649
pharmgkbrs193922649
gwascentralrs193922649
openSNPrs193922649
23andMers193922649
23andMe allrs193922649
SNP Nexus

SNPshotrs193922649
SNPdbers193922649
MSV3drs193922649
GWAS Ctlgrs193922649
Max Magnitude0
ClinVar
Risk rs193922649(;)
Alt rs193922649(;)
Reference rs193922649(A;A)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Danon disease
Variation info
Gene LAMP2
CLNDBN Primary familial hypertrophic cardiomyopathy Danon disease
Reversed 1
HGVS NC_000023.10:g.119582918delT
CLNSRC ClinVar LabCorp
CLNACC RCV000030113.1, RCV000037418.2,