{{Rsnum
|rsid=104894794
|Chromosome=X
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=EBP
|position=48528351
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=EBP
}}{{omim
|id=300205
|rsnum=104894794
|variant=0011
}}{{ClinVar
|rsid=104894794
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=48386739
|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.48386739G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=300205.0011
|CLNSIG=5
|CLNCUI=C0282102
|CLNDBN=Chondrodysplasia punctata 2 X-linked dominant
|Disease=Chondrodysplasia punctata 2 X-linked dominant
|CLNACC=RCV000012246.23
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1291:NBK55062:C0282102:302960:35173
}}