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rs1057518809

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518809(A;G)
Make rs1057518809(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48425795
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057518809
dbSNP (old)rs1057518809
ClinGenrs1057518809
ebirs1057518809
HLIrs1057518809
Exacrs1057518809
Gnomadrs1057518809
Varsomers1057518809
Maprs1057518809
PheGenIrs1057518809
Biobankrs1057518809
1000 genomesrs1057518809
hgdprs1057518809
ensemblrs1057518809
gopubmedrs1057518809
geneviewrs1057518809
scholarrs1057518809
googlers1057518809
pharmgkbrs1057518809
gwascentralrs1057518809
openSNPrs1057518809
23andMers1057518809
23andMe allrs1057518809
SNPshotrs1057518809
SNPdbers1057518809
MSV3drs1057518809
GWAS Ctlgrs1057518809
Max Magnitude0
ClinVar
Risk rs1057518809(G;G)
Alt rs1057518809(G;G)
Reference Rs1057518809(A;A)
Significance Probable-Pathogenic
Disease Aortic dilatation Aortic dissection Ascending aortic dissection Polycystic liver disease
Variation info
Gene FBN1
CLNDBN Aortic dilatation Aortic dissection Ascending aortic dissection Polycystic liver disease
Reversed 1
HGVS NC_000015.9:g.48717992T>C
CLNSRC
CLNACC RCV000415196.1,