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rs1057518554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518554(-;-)
Make rs1057518554(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48497305
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057518554
dbSNP (old)rs1057518554
ClinGenrs1057518554
ebirs1057518554
HLIrs1057518554
Exacrs1057518554
Gnomadrs1057518554
Varsomers1057518554
LitVarrs1057518554
Maprs1057518554
PheGenIrs1057518554
Biobankrs1057518554
1000 genomesrs1057518554
hgdprs1057518554
ensemblrs1057518554
gopubmedrs1057518554
geneviewrs1057518554
scholarrs1057518554
googlers1057518554
pharmgkbrs1057518554
gwascentralrs1057518554
openSNPrs1057518554
23andMers1057518554
23andMe allrs1057518554
SNPshotrs1057518554
SNPdbers1057518554
MSV3drs1057518554
GWAS Ctlgrs1057518554
Max Magnitude0
ClinVar
Risk rs1057518554(-;-)
Alt rs1057518554(-;-)
Reference Rs1057518554(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48789502delA
CLNSRC
CLNACC RCV000414363.1,