{{Rsnum
|rsid=398122914
|Chromosome=1
|Orientation=plus
|geno1=(-;-)
|geno2=(-;TCCGACCGCTCC)
|geno3=(TCCGACCGCTCC;TCCGACCGCTCC)
|Gene=SKI
|position=2229046
|Gene_s=SKI
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=1
|CLNACC=RCV000033006.20
|CLNALLE=1
|CLNDBN=Shprintzen-Goldberg syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1277:C1321551:182212:ORPHA2462:83092002
|CLNHGVS=NC_000001.11:g.2229046_2229057delTCCGACCGCTCC
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_003036.3:c.280_291delTCCGACCGCTCC; 164780.0008
|Disease=Shprintzen-Goldberg syndrome
|FwdREF=TCCGACCGCTCC
|GENEINFO=SKI:6497
|GENE_ID=6497
|GENE_NAME=SKI
|REF=GTCCGACCGCTCC
|RSPOS=2229045
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;ASP;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050060000005000002110200
|WGT=1
|dbSNPBuildID=138
|rsid=398122914
|CLNORIGIN=1
}}