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rs794727381

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727381(-;-)
Make rs794727381(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position7580199
GeneDSP
is asnp
is mentioned by
dbSNPrs794727381
ebirs794727381
HLIrs794727381
Exacrs794727381
Varsomers794727381
Maprs794727381
PheGenIrs794727381
hapmaprs794727381
1000 genomesrs794727381
hgdprs794727381
ensemblrs794727381
gopubmedrs794727381
geneviewrs794727381
scholarrs794727381
googlers794727381
pharmgkbrs794727381
gwascentralrs794727381
openSNPrs794727381
23andMers794727381
23andMe allrs794727381
SNP Nexus

SNPshotrs794727381
SNPdbers794727381
MSV3drs794727381
GWAS Ctlgrs794727381
Max Magnitude0
ClinVar
Risk rs794727381(;)
Alt rs794727381(;)
Reference rs794727381(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.7580432delG
CLNSRC
CLNACC RCV000176401.1,