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rs140627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140627(G;T)
Make rs140627(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48463949
GeneFBN1
is asnp
is mentioned by
dbSNPrs140627
dbSNP (classic)rs140627
ClinGenrs140627
ebirs140627
HLIrs140627
Exacrs140627
Gnomadrs140627
Varsomers140627
LitVarrs140627
Maprs140627
PheGenIrs140627
Biobankrs140627
1000 genomesrs140627
hgdprs140627
ensemblrs140627
geneviewrs140627
scholarrs140627
googlers140627
pharmgkbrs140627
gwascentralrs140627
openSNPrs140627
23andMers140627
SNPshotrs140627
SNPdbers140627
MSV3drs140627
GWAS Ctlgrs140627
Max Magnitude0
? (G;G) (G;T) (T;T) 28


ClinVar
Risk rs140627(A;A) rs140627(T;T)
Alt rs140627(A;A) rs140627(T;T)
Reference Rs140627(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48756146C>T
CLNSRC
CLNACC RCV000181694.1,