{{Rsnum
|rsid=199422116
|Chromosome=7
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=TBXAS1
|position=140017747
|Gene_s=TBXAS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=199422116
|Reversed=0
|FwdREF=G
|FwdALT=A,T
|REF=G
|ALT=A,T
|RSPOS=139717547
|CHROM=7
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000007.13:g.139717547G>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000012663.21
|CLNDBN=Ghosal hematodiaphyseal syndrome
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=274180.0003
|Disease=Ghosal hematodiaphyseal syndrome
|GENEINFO=TBXAS1:6916
|GENE_ID=6916
|GENE_NAME=TBXAS1
}}