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rs397514045

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514045(-;-)
Make rs397514045(-;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position7585042
GeneDSP
is asnp
is mentioned by
dbSNPrs397514045
ebirs397514045
HLIrs397514045
Exacrs397514045
Varsomers397514045
Maprs397514045
PheGenIrs397514045
hapmaprs397514045
1000 genomesrs397514045
hgdprs397514045
ensemblrs397514045
gopubmedrs397514045
geneviewrs397514045
scholarrs397514045
googlers397514045
pharmgkbrs397514045
gwascentralrs397514045
openSNPrs397514045
23andMers397514045
23andMe allrs397514045
SNP Nexus

SNPshotrs397514045
SNPdbers397514045
MSV3drs397514045
GWAS Ctlgrs397514045
Max Magnitude0
ClinVar
Risk rs397514045(;)
Alt rs397514045(;)
Reference rs397514045(T;T)
Significance Pathogenic
Disease Cardiomyopathy dilated with woolly hair and keratoderma
Variation info
Gene DSP
CLNDBN Cardiomyopathy dilated with woolly hair and keratoderma
Reversed 0
HGVS NC_000006.11:g.7585275delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000054449.24,