{{Rsnum
|rsid=121918713
|Chromosome=9
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=TGFBR1
|position=99132686
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TGFBR1
}}{{omim
|id=190181
|rsnum=121918713
|variant=0008
}}{{ClinVar
|rsid=121918713
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=101894968
|CHROM=9
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=TGFBR1:7046
|GENE_NAME=TGFBR1
|GENE_ID=7046
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.101894968G>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=190181.0008
|CLNSIG=5
|CLNCUI=C2674127
|CLNDBN=Loeys-Dietz syndrome type 2A
|Disease=Loeys-Dietz syndrome type 2A
|CLNACC=RCV000013353.15
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1133:C2674127:608967
}}