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rs34417028

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs34417028(C;C)
Make rs34417028(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position31546033
GeneAGPAT6, DSG2
is asnp
is mentioned by
dbSNPrs34417028
ebirs34417028
HLIrs34417028
Exacrs34417028
Varsomers34417028
Maprs34417028
PheGenIrs34417028
hapmaprs34417028
1000 genomesrs34417028
hgdprs34417028
ensemblrs34417028
gopubmedrs34417028
geneviewrs34417028
scholarrs34417028
googlers34417028
pharmgkbrs34417028
gwascentralrs34417028
openSNPrs34417028
23andMers34417028
23andMe allrs34417028
SNP Nexus

SNPshotrs34417028
SNPdbers34417028
MSV3drs34417028
GWAS Ctlgrs34417028
GMAF0.004132
Max Magnitude0
ClinVar
Risk rs34417028(C;C)
Alt rs34417028(C;C)
Reference rs34417028(T;T)
Significance Non-pathogenic
Disease Cardiomyopathy not specified
Variation info
Gene DSG2-AS1 DSG2
CLNDBN Cardiomyopathy not specified
Reversed 0
HGVS NC_000018.9:g.29125996T>C
CLNSRC ClinVar GeneDx LabCorp
CLNACC RCV000029669.3, RCV000037291.3,


GET Evidence
DSG2-S883P
aa_change Ser883Pro
aa_change_short S883P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00590551
summary