{{Rsnum
|rsid=387907305
|Chromosome=1
|position=2228867
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SKI
|Gene_s=SKI
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A,T
|CHROM=1
|CLNACC=RCV000030818.24; RCV000033005.24
|CLNALLE=1; 2
|CLNDBN=Shprintzen-Goldberg syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1277:C1321551:182212:ORPHA2462:83092002
|CLNHGVS=NC_000001.11:g.2228867G>A; NC_000001.11:g.2228867G>T
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_003036.3:c.101G>A; 164780.0003; NM_003036.3:c.101G>T; 164780.0007
|Disease=Shprintzen-Goldberg syndrome
|FwdALT=A,T
|FwdREF=G
|REF=G
|RSPOS=2228867
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;NSM;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000a05000002110100
|WGT=1
|dbSNPBuildID=136
|rsid=387907305
|GENEINFO=SKI:6497
|GENE_ID=6497
|GENE_NAME=SKI
|CLNORIGIN=1; 0
}}