{{Rsnum
|rsid=444772
|Gene=RP1
|Chromosome=8
|position=54626497
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.3003
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=RP1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 4.4 | 39.8 | 55.8
| HCB | 15.4 | 49.3 | 35.3
| JPT | 16.8 | 51.3 | 31.9
| YRI | 1.4 | 24.7 | 74.0
| ASW | 7.0 | 29.8 | 63.2
| CHB | 15.4 | 49.3 | 35.3
| CHD | 16.7 | 55.6 | 27.8
| GIH | 5.9 | 46.5 | 47.5
| LWK | 3.6 | 39.1 | 57.3
| MEX | 13.8 | 34.5 | 51.7
| MKK | 7.7 | 41.0 | 51.3
| TSI | 7.8 | 48.0 | 44.1
| HapMapRevision=28
}}{{Venter SNP
|rsid=444772
|allele=A
|frequency=0.233
|uid=1103652322956
|type=heterozygous_SNP
|hugo=RP1
|ensembl gene=ENSG00000104237
|ensembl transcript=ENST00000220676
|sift=
|disease=Defects in RP1 are the cause of retinitis pigmentosa type 1 (RP1) (MIM:180100). RP1 is a disease characterized by constriction of the visual fields, night blindness, and fundus changes. The disease seems to be associated with truncated (stop or frameshift mutations) forms of the protein.
}}

{{ neighbor
| rsid = 2293869
| distance = 338
}}

{{PMID Auto
|PMID=19339744
|Title=Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
|OA=1
}}

{{PMID Auto
|PMID=20664799
|Title=Differential pattern of RP1 mutations in retinitis pigmentosa.
|OA=1
}}

{{GET Evidence
|gene=RP1
|aa_change=Arg872His
|aa_change_short=R872H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs444772
|overall_frequency_n=2528
|overall_frequency_d=10738
|overall_frequency=0.235426
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=22
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.001
|genetests_testable=Y
|nblosum100=1
|autoscore=2
|n_web_uneval=10
}}

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