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rs1057518973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518973(C;C)
Make rs1057518973(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48596343
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057518973
dbSNP (old)rs1057518973
ClinGenrs1057518973
ebirs1057518973
HLIrs1057518973
Exacrs1057518973
Gnomadrs1057518973
Varsomers1057518973
LitVarrs1057518973
Maprs1057518973
PheGenIrs1057518973
Biobankrs1057518973
1000 genomesrs1057518973
hgdprs1057518973
ensemblrs1057518973
gopubmedrs1057518973
geneviewrs1057518973
scholarrs1057518973
googlers1057518973
pharmgkbrs1057518973
gwascentralrs1057518973
openSNPrs1057518973
23andMers1057518973
23andMe allrs1057518973
SNPshotrs1057518973
SNPdbers1057518973
MSV3drs1057518973
GWAS Ctlgrs1057518973
Max Magnitude0
ClinVar
Risk rs1057518973(C;C)
Alt rs1057518973(C;C)
Reference Rs1057518973(T;T)
Significance Probable-Pathogenic
Disease Aortic dissection Ectopia lentis Mitral regurgitation
Variation info
Gene FBN1
CLNDBN Aortic dissection Ectopia lentis Mitral regurgitation
Reversed 1
HGVS NC_000015.9:g.48888540A>G
CLNSRC
CLNACC RCV000415236.1,