{{Rsnum
|rsid=397514047
|Chromosome=5
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PIK3R1
|position=68294575
|Gene_s=PIK3R1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=5
|CLNACC=RCV000054533.18
|CLNALLE=1
|CLNDBN=SHORT syndrome
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C0878684:269880:3163
|CLNHGVS=NC_000005.9:g.67590403G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=171833.0003
|Disease=SHORT syndrome
|FwdALT=A
|FwdREF=G
|GENEINFO=PIK3R1:5295
|GENE_ID=5295
|GENE_NAME=PIK3R1
|REF=G
|RSPOS=67590403
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514047
}}