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rs1057518788

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518788(G;T)
Make rs1057518788(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position31331787
GeneDSG1
is asnp
is mentioned by
dbSNPrs1057518788
dbSNP (old)rs1057518788
ClinGenrs1057518788
ebirs1057518788
HLIrs1057518788
Exacrs1057518788
Gnomadrs1057518788
Varsomers1057518788
Maprs1057518788
PheGenIrs1057518788
Biobankrs1057518788
1000 genomesrs1057518788
hgdprs1057518788
ensemblrs1057518788
gopubmedrs1057518788
geneviewrs1057518788
scholarrs1057518788
googlers1057518788
pharmgkbrs1057518788
gwascentralrs1057518788
openSNPrs1057518788
23andMers1057518788
23andMe allrs1057518788
SNPshotrs1057518788
SNPdbers1057518788
MSV3drs1057518788
GWAS Ctlgrs1057518788
Max Magnitude0
ClinVar
Risk rs1057518788(T;T)
Alt rs1057518788(T;T)
Reference Rs1057518788(G;G)
Significance Probable-Pathogenic
Disease Bicuspid aortic valve Palmoplantar hyperkeratosis
Variation info
Gene DSG1
CLNDBN Bicuspid aortic valve Palmoplantar hyperkeratosis
Reversed 0
HGVS NC_000018.9:g.28911750G>T
CLNSRC
CLNACC RCV000415242.1,