{{Rsnum
|rsid=414352
|Gene=RP1
|Chromosome=8
|position=54628953
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.3039
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=RP1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 4.4 | 39.8 | 55.8
| HCB | 15.3 | 49.6 | 35.0
| JPT | 16.8 | 51.3 | 31.9
| YRI | 2.0 | 27.2 | 70.7
| ASW | 7.0 | 29.8 | 63.2
| CHB | 15.3 | 49.6 | 35.0
| CHD | 17.4 | 55.0 | 27.5
| GIH | 5.9 | 44.6 | 49.5
| LWK | 3.7 | 40.4 | 56.0
| MEX | 13.8 | 34.5 | 51.7
| MKK | 8.3 | 42.3 | 49.4
| TSI | 7.8 | 48.0 | 44.1
| HapMapRevision=28
}}

{{Venter SNP
|rsid=414352
|allele=C
|frequency=0.233
|uid=1103652322963
|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 = 446227
| distance = 63
}}

{{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=Ser1691Pro
|aa_change_short=S1691P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs414352
|overall_frequency_n=2663
|overall_frequency_d=10758
|overall_frequency=0.247537
|n_genomes=23
|n_genomes_annotated=0
|n_haplomes=24
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=3
|autoscore=2
|n_web_uneval=7
}}

{{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}}