{{Rsnum
|rsid=7014851
|Gene=HR
|Chromosome=8
|position=22119197
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.0753
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=HR
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 0.9 | 0.9 | 98.2
| HCB | 0.0 | 0.7 | 99.3
| JPT | 0.0 | 0.0 | 100.0
| YRI | 10.9 | 47.6 | 41.5
| ASW | 8.8 | 35.1 | 56.1
| CHB | 0.0 | 0.7 | 99.3
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 1.0 | 99.0
| LWK | 6.4 | 31.8 | 61.8
| MEX | 0.0 | 3.4 | 96.6
| MKK | 5.1 | 30.8 | 64.1
| TSI | 0.0 | 2.9 | 97.1
| HapMapRevision=28
}}{{omim
|desc=ALOPECIA UNIVERSALIS CONGENITA
|id=602302
|rsnum=7014851
|variant=0001
}}

{{ClinVar
|rsid=7014851
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=21976710
|CHROM=8
|GMAF=0.0751
|dbSNPBuildID=116
|SSR=0
|SAO=1
|VP=0x050160000000150517110101
|GENEINFO=HR:55806
|GENE_NAME=HR
|GENE_ID=55806
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.21976710T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=602302.0001
|CLNSIG=5
|CLNCUI=C1859877
|CLNDBN=Alopecia universalis congenita
|Disease=Alopecia universalis congenita
|CLNACC=RCV000007755.1
|Tags=PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9247; 0.0753
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1859877:203655:701
|COMMON=1
}}

{{GET Evidence
|gene=HR
|aa_change=Thr1022Ala
|aa_change_short=T1022A
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs7014851
|overall_frequency_n=1043
|overall_frequency_d=10758
|overall_frequency=0.0969511
|n_genomes=8
|n_genomes_annotated=0
|n_haplomes=9
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_case_control=2
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualityscore_severity=0
|qualityscore_treatability=0
|gene_in_genetests=Y
|in_omim=Y
|nblosum100=1
|max_or_disease_name=Alopecia Universalis
|max_or_case_pos=0
|max_or_case_neg=0
|max_or_control_pos=14
|max_or_control_neg=1212
|autoscore=2
|webscore=N
|n_web_uneval=8
|variant_evidence=0
|clinical_importance=0
|summary_short=Probably benign. One study implicated it in causing alopecia universalis, but a later report noted the variant has an allele frequency inconsistent with the rarity of that disease.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}