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rs111856492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 5.5 Marfan syndrome mutation
Make rs111856492(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48415695
GeneFBN1
is asnp
is mentioned by
dbSNPrs111856492
dbSNP (classic)rs111856492
ClinGenrs111856492
ebirs111856492
HLIrs111856492
Exacrs111856492
Gnomadrs111856492
Varsomers111856492
LitVarrs111856492
Maprs111856492
PheGenIrs111856492
Biobankrs111856492
1000 genomesrs111856492
hgdprs111856492
ensemblrs111856492
geneviewrs111856492
scholarrs111856492
googlers111856492
pharmgkbrs111856492
gwascentralrs111856492
openSNPrs111856492
23andMers111856492
SNPshotrs111856492
SNPdbers111856492
MSV3drs111856492
GWAS Ctlgrs111856492
Max Magnitude5.5
ClinVar
Risk rs111856492(A;A) rs111856492(T;T)
Alt rs111856492(A;A) rs111856492(T;T)
Reference Rs111856492(G;G)
Significance Probable-Pathogenic
Disease not specified
Variation info
Gene FBN1
CLNDBN not specified
Reversed 1
HGVS NC_000015.9:g.48707892C>T
CLNSRC ClinVar
CLNACC RCV000035281.3,