{{Rsnum
|rsid=966365
|Gene=EDARADD
|Chromosome=1
|position=236394471
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2323
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=EDARADD
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 6.2 | 23.0 | 70.8
| HCB | 0.0 | 11.9 | 88.1
| JPT | 0.0 | 8.8 | 91.2
| YRI | 25.2 | 51.0 | 23.8
| ASW | 25.0 | 48.2 | 26.8
| CHB | 0.0 | 11.9 | 88.1
| CHD | 0.9 | 14.7 | 84.4
| GIH | 0.0 | 6.9 | 93.1
| LWK | 33.0 | 51.4 | 15.6
| MEX | 0.0 | 22.4 | 77.6
| MKK | 28.8 | 48.1 | 23.1
| TSI | 2.9 | 24.5 | 72.5
| HapMapRevision=28
}}{{Venter SNP
|rsid=966365
|allele=A
|frequency=0.167
|uid=1103675371408
|type=heterozygous_SNP
|hugo=ENO1P
|ensembl gene=ENSG00000186197
|ensembl transcript=ENST00000334232
|sift=
|disease=Defects in EDARADD are a cause of autosomal recessive hypohidrotic ectodermal dysplasia (HED) (MIM:224900); also known as anhidrotic ectodermal dysplasia (EDA). HED is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.
}}

{{GET Evidence
|gene=EDARADD
|aa_change=Met9Ile
|aa_change_short=M9I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs966365
|overall_frequency_n=7972
|overall_frequency_d=10758
|overall_frequency=0.74103
|n_genomes=52
|n_genomes_annotated=0
|n_haplomes=84
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}