{{Rsnum
|rsid = 28936401
|Gene = ACVRL1
|geno1 = (C;C)
|geno2 = (C;T)
|geno3 = (T;T)
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|Chromosome=12
|position=51916107
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ACVRL1
}}{{omim
|desc=TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
|id=601284
|rsnum=28936401
|variant=0007
}}
{{ neighbor
| rsid = 28936688
| distance = 624
}}
{{ neighbor
| rsid = 28936399
| distance = 7
}}

{{ClinVar
|rsid=28936401
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=52309891
|CHROM=12
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=ACVRL1:94
|GENE_NAME=ACVRL1
|GENE_ID=94
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.52309891C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601284.0007
|CLNSIG=5
|CLNCUI=C1838163
|CLNDBN=Hereditary hemorrhagic telangiectasia type 2; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
|Disease=Hereditary hemorrhagic telangiectasia type 2; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
|CLNACC=RCV000008733.1; RCV000008734.2
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK1351:C1838163:600376:774; C1832529
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}