Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057518883

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518883(G;G)
Make rs1057518883(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48415571
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057518883
dbSNP (old)rs1057518883
ClinGenrs1057518883
ebirs1057518883
HLIrs1057518883
Exacrs1057518883
Gnomadrs1057518883
Varsomers1057518883
Maprs1057518883
PheGenIrs1057518883
Biobankrs1057518883
1000 genomesrs1057518883
hgdprs1057518883
ensemblrs1057518883
gopubmedrs1057518883
geneviewrs1057518883
scholarrs1057518883
googlers1057518883
pharmgkbrs1057518883
gwascentralrs1057518883
openSNPrs1057518883
23andMers1057518883
23andMe allrs1057518883
SNPshotrs1057518883
SNPdbers1057518883
MSV3drs1057518883
GWAS Ctlgrs1057518883
Max Magnitude0
ClinVar
Risk rs1057518883(G;G)
Alt rs1057518883(G;G)
Reference Rs1057518883(T;T)
Significance Probable-Pathogenic
Disease Aortic root dilatation Dental crowding Ectopia lentis High palate Mitral regurgitation Protrusio acetabuli Tall stature
Variation info
Gene FBN1
CLNDBN Aortic root dilatation Dental crowding Ectopia lentis High palate Mitral regurgitation Protrusio acetabuli Tall stature
Reversed 1
HGVS NC_000015.9:g.48707768A>C
CLNSRC
CLNACC RCV000414807.1,