{{Rsnum
|rsid=104894795
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=EBP
|position=48523824
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=EBP
}}{{omim
|id=300205
|rsnum=104894795
|variant=0013
}}{{ClinVar
|rsid=104894795
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=48382212
|CHROM=X
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=EBP:10682
|GENE_NAME=EBP
|GENE_ID=10682
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.48382212T>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;OTHERKG;LSD;OM
|CLNACC=RCV000012248.10
|CLNDBN=CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=300205.0013
|Disease=CHONDRODYSPLASIA PUNCTATA 2
}}