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

rs121912997

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912997(C;T)
Make rs121912997(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position7579989
GeneDSP
is asnp
is mentioned by
dbSNPrs121912997
ebirs121912997
HLIrs121912997
Exacrs121912997
Varsomers121912997
Maprs121912997
PheGenIrs121912997
hapmaprs121912997
1000 genomesrs121912997
hgdprs121912997
ensemblrs121912997
gopubmedrs121912997
geneviewrs121912997
scholarrs121912997
googlers121912997
pharmgkbrs121912997
gwascentralrs121912997
openSNPrs121912997
23andMers121912997
23andMe allrs121912997
SNP Nexus

SNPshotrs121912997
SNPdbers121912997
MSV3drs121912997
GWAS Ctlgrs121912997
Max Magnitude0
OMIM125647
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121912997(T;T)
Alt rs121912997(T;T)
Reference rs121912997(C;C)
Significance Pathogenic
Disease Cardiomyopathy dilated with woolly hair and keratoderma Long QT syndrome Primary dilated cardiomyopathy
Variation info
Gene DSP
CLNDBN Cardiomyopathy dilated with woolly hair and keratoderma Long QT syndrome Primary dilated cardiomyopathy
Reversed 0
HGVS NC_000006.11:g.7580222C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018339.24, RCV000157195.1,