{{Rsnum
|rsid=397514590
|Chromosome=1
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SKI
|position=2228869
|Gene_s=SKI
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=1
|CLNACC=RCV000033008.24
|CLNALLE=1
|CLNDBN=Shprintzen-Goldberg syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1277:C1321551:182212:ORPHA2462:83092002
|CLNHGVS=NC_000001.11:g.2228869C>T
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_003036.3:c.103C>T; 164780.0010
|Disease=Shprintzen-Goldberg syndrome
|FwdALT=T
|FwdREF=C
|GENEINFO=SKI:6497
|GENE_ID=6497
|GENE_NAME=SKI
|REF=C
|RSPOS=2228869
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;NSM;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000a05000002110100
|WGT=1
|dbSNPBuildID=136
|rsid=397514590
|CLNORIGIN=1
}}