{{Rsnum
|rsid=147195031
|Gene=FBN1
|Chromosome=15
|position=48420780
|Orientation=plus
|Gene_s=FBN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=Marfan syndrome for homozygous recessive
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|rsid=147195031
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=48712977
|CHROM=15
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050260000000000002100100
|GENEINFO=FBN1:2200
|GENE_NAME=FBN1
|GENE_ID=2200
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.48712977G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSIG=5
|CLNDBN=Marfan's syndrome; Marfan syndrome, autosomal recessive
|Disease=Marfan's syndrome; Marfan syndrome
|Tags=PM;S3D;OTHERKG;LSD
|CLNACC=RCV000029780.1; RCV000083258.1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1335:C0024796:154700:558:19346006
|CLNSRCID=134797.0068
}}

A patient with two copies of the minor allele of this [[FBN1]] gene SNP has been diagnosed as being a patient with [[Marfan Syndrome]].[PMID 23278365]

See also: [http://omim.org/entry/134797#0068 OMIM 134797.0068]