{{Rsnum
|rsid=140603
|Gene=FBN1
|Chromosome=15
|position=48503845
|Orientation=minus
|GMAF=0.002755
|Gene_s=FBN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 96.8 | 3.2 | 0.0
| ASW | 98.2 | 0.0 | 1.8
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 97.3 | 0.9 | 1.8
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{ClinVar
|rsid=140603
|Reversed=1
|FwdREF=C
|FwdALT=G,T
|REF=G
|ALT=A,C
|RSPOS=48796042
|CHROM=15
|GMAF=0.0027
|dbSNPBuildID=78
|SSR=0
|SAO=1
|VP=0x050368000000050517100100
|GENEINFO=FBN1:2200
|GENE_NAME=FBN1
|GENE_ID=2200
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000015.9:g.48796042G>A; NC_000015.9:g.48796042G>C
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=255
|CLNCUI=
|CLNDBN=Marfan's syndrome
|Disease=Marfan's syndrome
|CLNACC=
RCV000029704.1; RCV000029703.3
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|CAF=0.9972; 0.002755; .
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1335:C0024796:154700:558:19346006
|COMMON=1
}}

{{PMID Auto
|PMID=12203992
|Title=TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
}}

{{PMID Auto
|PMID=12938084
|Title=Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
}}

{{PMID Auto
|PMID=15241795
|Title=Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
}}

{{PMID Auto
|PMID=16342915
|Title=Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity.
}}

{{on chip | Illumina Human 1M}}