{{Rsnum
|rsid=74315309
|Chromosome=1
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=EDARADD
|position=236482455
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=EDARADD
}}{{omim
|id=606603
|rsnum=74315309
|variant=0001
}}{{ClinVar
|rsid=74315309
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=236482455
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000a05000002110100
|GENEINFO=EDARADD:128178
|GENE_NAME=EDARADD
|GENE_ID=128178
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.236482455G>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNACC=RCV000004407.1; RCV000055987.1
|CLNDBN=Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet; GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=CN160754:614941:ORPHA238468:ORPHA248; NBK1112:C0406702:224900:ORPHA238468:ORPHA248:27025001
|CLNSRC=ClinVar; GeneReviews; OMIM Allelic Variant
|CLNSRCID=NM_145861.2:c.454G>A; NBK1112; 606603.0001
|Disease=Ectodermal dysplasia 11b; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
}}