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rs780970079

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs780970079(-;CTTC)
Make rs780970079(CTTC;CTTC)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position31068135
GeneDSC2
is asnp
is mentioned by
dbSNPrs780970079
ClinGenrs780970079
ebirs780970079
HLIrs780970079
Exacrs780970079
Varsomers780970079
Maprs780970079
PheGenIrs780970079
hapmaprs780970079
1000 genomesrs780970079
hgdprs780970079
ensemblrs780970079
gopubmedrs780970079
geneviewrs780970079
scholarrs780970079
googlers780970079
pharmgkbrs780970079
gwascentralrs780970079
openSNPrs780970079
23andMers780970079
23andMe allrs780970079
SNP Nexus

SNPshotrs780970079
SNPdbers780970079
MSV3drs780970079
GWAS Ctlgrs780970079
Max Magnitude0
ClinVar
Risk rs780970079(CTTC;CTTC)
Alt rs780970079(CTTC;CTTC)
Reference Rs780970079(;)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene DSC2
CLNDBN Cardiomyopathy
Reversed 0
HGVS NC_000018.9:g.28648102_28648105dupCTTC
CLNSRC
CLNACC RCV000181182.1,