{{Rsnum
|rsid=267607046
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=5
|Orientation=minus
|Gene=SH3PXD2B
|position=172422445
|Gene_s=SH3PXD2B
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=5
|CLNACC=RCV000000213.1
|CLNALLE=1
|CLNDBN=Frank Ter Haar syndrome
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1855305:249420:137834
|CLNHGVS=NC_000005.9:g.171849449G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=613293.0003
|Disease=Frank Ter Haar syndrome
|FwdALT=T
|FwdREF=C
|GENEINFO=SH3PXD2B:285590
|GENE_ID=285590
|GENE_NAME=SH3PXD2B
|REF=G
|RSPOS=171849449
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267607046
}}