{{Rsnum
|rsid=446227
|Gene=RP1
|Chromosome=8
|position=54628890
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.275
|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 | 15.6 | 48.1 | 36.3
| JPT | 17.0 | 50.9 | 32.1
| YRI | 0.0 | 13.0 | 87.0
| ASW | 1.8 | 15.8 | 82.5
| CHB | 15.6 | 48.1 | 36.3
| CHD | 17.4 | 56.0 | 26.6
| GIH | 5.9 | 42.6 | 51.5
| LWK | 2.7 | 36.4 | 60.9
| MEX | 8.6 | 36.2 | 55.2
| MKK | 5.8 | 42.2 | 51.9
| TSI | 6.9 | 46.1 | 47.1
| HapMapRevision=28
}}

{{Venter SNP
|rsid=446227
|allele=A
|frequency=0.233
|uid=1103652322959
|type=heterozygous_SNP
|hugo=RP1
|ensembl gene=ENSG00000104237
|ensembl transcript=ENST00000220676
|sift=TOLERATED
|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 = 414352
| distance = 63
}}

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

{{GET Evidence
|gene=RP1
|aa_change=Ala1670Thr
|aa_change_short=A1670T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs446227
|overall_frequency_n=2195
|overall_frequency_d=10758
|overall_frequency=0.204034
|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=2
}}

{{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}}