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rs794728077

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728077(G;TT)
Make rs794728077(TT;TT)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position31068173
GeneDSC2
is asnp
is mentioned by
dbSNPrs794728077
dbSNP (classic)rs794728077
ClinGenrs794728077
ebirs794728077
HLIrs794728077
Exacrs794728077
Gnomadrs794728077
Varsomers794728077
LitVarrs794728077
Maprs794728077
PheGenIrs794728077
Biobankrs794728077
1000 genomesrs794728077
hgdprs794728077
ensemblrs794728077
geneviewrs794728077
scholarrs794728077
googlers794728077
pharmgkbrs794728077
gwascentralrs794728077
openSNPrs794728077
23andMers794728077
SNPshotrs794728077
SNPdbers794728077
MSV3drs794728077
GWAS Ctlgrs794728077
Max Magnitude0

aka c.2548delGinsTT

ClinVar
Risk rs794728077(TT;TT)
Alt rs794728077(TT;TT)
Reference Rs794728077(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene DSC2
CLNDBN not provided
Reversed 1
HGVS NC_000018.9:g.28648139delCinsAA
CLNSRC
CLNACC RCV000181181.2,