{{Rsnum
|rsid=267607038
|Chromosome=18
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SETBP1
|position=44951952
|Gene_s=SETBP1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=18
|CLNACC=RCV000001086.1
|CLNALLE=1
|CLNDBN=Schinzel-Giedion syndrome
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1849294:269150:798:18899000
|CLNHGVS=NC_000018.9:g.42531917T>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=611060.0001
|Disease=Schinzel-Giedion syndrome
|FwdALT=C
|FwdREF=T
|GENEINFO=SETBP1:26040
|GENE_ID=26040
|GENE_NAME=SETBP1
|REF=T
|RSPOS=42531917
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267607038
}}