{{Rsnum
|rsid=2293869
|Gene=RP1
|Chromosome=8
|position=54626835
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=T
|GMAF=0.2608
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=RP1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 27.7 | 52.3 | 20.0
| HCB | 91.1 | 8.9 | 0.0
| JPT | 79.5 | 20.5 | 0.0
| YRI | 68.3 | 30.2 | 1.6
| ASW | 0.0 | 0.0 | 0.0
| CHB | 91.1 | 8.9 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{omim
|desc=HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO
|id=603937
|rsnum=2293869
|variant=0005
}}

{{ neighbor
| rsid = 444772
| distance = 338
}}

{{ClinVar
|rsid=2293869
|Reversed=0
|FwdREF=A
|FwdALT=T
|REF=A
|ALT=T
|RSPOS=55539395
|CHROM=8
|GMAF=0.2605
|dbSNPBuildID=100
|SSR=0
|SAO=1
|VP=0x05016800000015051f110101
|GENEINFO=RP1:6101
|GENE_NAME=RP1
|GENE_ID=6101
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.55539395A>T
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.7392; 0.2608
|CLNACC=RCV000006333.1; RCV000081369.1
|CLNDBN=Hypertriglyceridemia, susceptibility to; AllHighlyPenetrant
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=15088; 603937.0005
|COMMON=1
|Disease=Hypertriglyceridemia; AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
}}

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

{{GET Evidence
|gene=RP1
|aa_change=Asn985Tyr
|aa_change_short=N985Y
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs2293869
|overall_frequency_n=3751
|overall_frequency_d=10758
|overall_frequency=0.348671
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=29
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.958
|genetests_testable=Y
|nblosum100=5
|autoscore=4
|webscore=N
|n_web_uneval=7
|variant_evidence=0
|clinical_importance=0
|summary_short=Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}