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rs1057518881

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518881(G;T)
Make rs1057518881(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48513656
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057518881
dbSNP (old)rs1057518881
ClinGenrs1057518881
ebirs1057518881
HLIrs1057518881
Exacrs1057518881
Gnomadrs1057518881
Varsomers1057518881
LitVarrs1057518881
Maprs1057518881
PheGenIrs1057518881
Biobankrs1057518881
1000 genomesrs1057518881
hgdprs1057518881
ensemblrs1057518881
gopubmedrs1057518881
geneviewrs1057518881
scholarrs1057518881
googlers1057518881
pharmgkbrs1057518881
gwascentralrs1057518881
openSNPrs1057518881
23andMers1057518881
23andMe allrs1057518881
SNPshotrs1057518881
SNPdbers1057518881
MSV3drs1057518881
GWAS Ctlgrs1057518881
Max Magnitude0
ClinVar
Risk rs1057518881(A;A) rs1057518881(T;T)
Alt rs1057518881(A;A) rs1057518881(T;T)
Reference Rs1057518881(G;G)
Significance Probable-Pathogenic
Disease Lens subluxation Myopia Pectus carinatum Tall stature not provided
Variation info
Gene FBN1
CLNDBN Lens subluxation Myopia Pectus carinatum Tall stature not provided
Reversed 1
HGVS NC_000015.9:g.48805853C>A; NC_000015.9:g.48805853C>T
CLNSRC
CLNACC RCV000414981.1, RCV000423905.1,