{{Rsnum
|rsid=113605875
|Chromosome=9
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=TGFBR1
|position=99149253
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TGFBR1
}}{{omim
|id=190181
|rsnum=113605875
|variant=0004
}}
{{omim
|id=190181
|rsnum=113605875
|variant=0006
}}{{ClinVar
|rsid=113605875
|Reversed=0
|FwdREF=G
|FwdALT=A,C
|REF=G
|ALT=A,C
|RSPOS=101911535
|CHROM=9
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=TGFBR1:7046
|GENE_NAME=TGFBR1
|GENE_ID=7046
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000009.11:g.101911535G>A; NC_000009.11:g.101911535G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=190181.0006; 190181.0004
|CLNCUI=C2674127,C1836635; C2674127
|CLNDBN=Loeys-Dietz syndrome type 2A; Loeys-Dietz syndrome type 1A
|Disease=Loeys-Dietz syndrome type 2A; Loeys-Dietz syndrome type 1A
|CLNACC=RCV000013351.21; RCV000013348.23; RCV000013349.15
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1133:C2674127:608967; NBK1133:C1836635:609192:60030
|CLNSIG=5
}}