{{Rsnum
|rsid=104894487
|Gene=EPB42
|Chromosome=15
|position=43215191
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=EPB42
}}{{omim
|id=177070
|rsnum=104894487
|variant=0001
}}{{ClinVar
|rsid=104894487
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=43507389
|CHROM=15
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x05026000000000001e110100
|GENEINFO=EPB42:2038
|GENE_NAME=EPB42
|GENE_ID=2038
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.43507389C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;S3D;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNACC=RCV000014138.23
|CLNDBN=Spherocytosis type 5
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2675192:612690:822
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=177070.0001
|COMMON=0
|Disease=Spherocytosis type 5
}}