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rs1057518812

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518812(A;T)
Make rs1057518812(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48430742
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057518812
dbSNP (old)rs1057518812
ClinGenrs1057518812
ebirs1057518812
HLIrs1057518812
Exacrs1057518812
Gnomadrs1057518812
Varsomers1057518812
Maprs1057518812
PheGenIrs1057518812
Biobankrs1057518812
1000 genomesrs1057518812
hgdprs1057518812
ensemblrs1057518812
gopubmedrs1057518812
geneviewrs1057518812
scholarrs1057518812
googlers1057518812
pharmgkbrs1057518812
gwascentralrs1057518812
openSNPrs1057518812
23andMers1057518812
23andMe allrs1057518812
SNPshotrs1057518812
SNPdbers1057518812
MSV3drs1057518812
GWAS Ctlgrs1057518812
Max Magnitude0
ClinVar
Risk rs1057518812(T;T)
Alt rs1057518812(T;T)
Reference Rs1057518812(A;A)
Significance Pathogenic
Disease Dilatation of the ascending aorta Dolichocephaly High palate Mitral valve prolapse Myopia Pes planus Scoliosis
Variation info
Gene FBN1
CLNDBN Dilatation of the ascending aorta Dolichocephaly High palate Mitral valve prolapse Myopia Pes planus Scoliosis
Reversed 1
HGVS NC_000015.9:g.48722939T>A
CLNSRC
CLNACC RCV000414920.1,