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rs397514039

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514039(-;-)
Make rs397514039(-;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position7584885
GeneDSP
is asnp
is mentioned by
dbSNPrs397514039
ebirs397514039
HLIrs397514039
Exacrs397514039
Varsomers397514039
Maprs397514039
PheGenIrs397514039
hapmaprs397514039
1000 genomesrs397514039
hgdprs397514039
ensemblrs397514039
gopubmedrs397514039
geneviewrs397514039
scholarrs397514039
googlers397514039
pharmgkbrs397514039
gwascentralrs397514039
openSNPrs397514039
23andMers397514039
23andMe allrs397514039
SNP Nexus

SNPshotrs397514039
SNPdbers397514039
MSV3drs397514039
GWAS Ctlgrs397514039
Max Magnitude0
ClinVar
Risk rs397514039(;)
Alt rs397514039(;)
Reference rs397514039(G;G)
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.7585118delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000018331.28,