{{Rsnum
|rsid=121434515
|Chromosome=10
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=KIAA1279
|position=68989082
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=KIAA1279
}}{{omim
|id=609367
|rsnum=121434515
|variant=0002
}}{{ClinVar
|rsid=121434515
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=70748838
|CHROM=10
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=KIAA1279:26128
|GENE_NAME=KIAA1279
|GENE_ID=26128
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.70748838G>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=609367.0002
|CLNSIG=5
|CLNCUI=C1836123
|CLNDBN=Goldberg-Shprintzen megacolon syndrome
|Disease=Goldberg-Shprintzen megacolon syndrome
|CLNACC=RCV000001804.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1836123:609460:66629
}}