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rs1057518920

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518920(A;A)
Make rs1057518920(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position7575386
GeneDSP
is asnp
is mentioned by
dbSNPrs1057518920
dbSNP (classic)rs1057518920
ClinGenrs1057518920
ebirs1057518920
HLIrs1057518920
Exacrs1057518920
Gnomadrs1057518920
Varsomers1057518920
LitVarrs1057518920
Maprs1057518920
PheGenIrs1057518920
Biobankrs1057518920
1000 genomesrs1057518920
hgdprs1057518920
ensemblrs1057518920
geneviewrs1057518920
scholarrs1057518920
googlers1057518920
pharmgkbrs1057518920
gwascentralrs1057518920
openSNPrs1057518920
23andMers1057518920
SNPshotrs1057518920
SNPdbers1057518920
MSV3drs1057518920
GWAS Ctlgrs1057518920
Max Magnitude0
ClinVar
Risk rs1057518920(A;A)
Alt rs1057518920(A;A)
Reference Rs1057518920(C;C)
Significance Pathogenic
Disease Aortic dilatation Arrhythmia Bicuspid aortic valve Sudden cardiac death Ventricular fibrillation
Variation info
Gene DSP
CLNDBN Aortic dilatation Arrhythmia Bicuspid aortic valve Sudden cardiac death Ventricular fibrillation
Reversed 0
HGVS NC_000006.11:g.7575619C>A
CLNSRC
CLNACC RCV000415085.1,