{{Rsnum
|rsid=140005285
|Chromosome=7
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=TBXAS1
|position=139911233
|Gene_s=TBXAS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=140005285
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=139611032
|CHROM=7
|dbSNPBuildID=134
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=TBXAS1:6916
|GENE_NAME=TBXAS1
|GENE_ID=6916
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.139611032T>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000012662.21
|CLNDBN=Ghosal hematodiaphyseal syndrome
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=274180.0002
|Disease=Ghosal hematodiaphyseal syndrome
}}