{{Rsnum
|rsid=397514046
|Chromosome=5
|Orientation=plus
|geno1=(-;-)
|geno2=(-;ATT)
|geno3=(ATT;ATT)
|Gene=PIK3R1
|position=68295194
|Gene_s=PIK3R1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=5
|CLNACC=RCV000054532.18
|CLNALLE=1
|CLNDBN=SHORT syndrome
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C0878684:269880:3163
|CLNHGVS=NC_000005.9:g.67591022_67591024delATT
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=171833.0002
|Disease=SHORT syndrome
|FwdREF=ATT
|GENEINFO=PIK3R1:5295
|GENE_ID=5295
|GENE_NAME=PIK3R1
|REF=AATT
|RSPOS=67591018
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050060000000000002110200
|WGT=0
|dbSNPBuildID=136
|rsid=397514046
}}