{{Rsnum
|rsid=10151259
|Gene=RPGRIP1
|Chromosome=14
|position=21321881
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=T
|GMAF=0.1616
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=RPGRIP1
}}{{omim
|desc=CONE-ROD DYSTROPHY 9
|id=605446
|rsnum=10151259
|variant=0006
}}

{{ population diversity
| geno1 = (G;G)
| geno2 = (G;T)
| geno3 = (T;T)
| CEU | 60.0 | 36.7 | 3.3
| CHB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 50.0 | 40.0 | 10.0
}}

{{ClinVar
|rsid=10151259
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=21790040
|CHROM=14
|GMAF=0.1612
|dbSNPBuildID=119
|SSR=0
|SAO=1
|VP=0x05016800000015051f110100
|GENEINFO=RPGRIP1:57096
|GENE_NAME=RPGRIP1
|GENE_ID=57096
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.21790040G>T
|CLNSRC=GeneReviews; OMIM Allelic Variant; Retina International
|CLNORIGIN=1
|CLNSRCID=NBK1298; 605446.0006; RISN-RPGRIP:c.1639G>T
|CLNSIG=5
|CLNCUI=C2750720
|CLNDBN=Cone-rod dystrophy 13; not provided
|Disease=Cone-rod dystrophy 13; not provided
|CLNACC=RCV000005275.2; RCV000086240.1
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.8384; 0.1616
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1298:C2750720:608194:1872
|COMMON=1
}}

{{PMID Auto
|PMID=18936139
|Title=Mutation survey of known LCA genes and loci in the Saudi Arabian population.
|OA=1
}}

{{GET Evidence
|gene=RPGRIP1
|aa_change=Ala547Ser
|aa_change_short=A547S
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs10151259
|overall_frequency_n=2257
|overall_frequency_d=9720
|overall_frequency=0.232202
|n_genomes=22
|n_genomes_annotated=0
|n_haplomes=25
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=1
|qualitycomment_case_control=Y
|qualityscore_familial=!
|qualitycomment_familial=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.03
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=4
|webscore=N
|n_web_uneval=4
|variant_evidence=0
|clinical_importance=0
|summary_short=Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.
}}

This [[SNP]] has been associated with recessive cone-rod dystrophy but is probably benign:

A study {{PMID|12920076|OA=1
}} of four consanguineous Pakistani families found that recessive cone-rod dystrophy (CRD) segregated with this [[SNP]], which results in a Alanine to Serine missense mutation at the amino acid level in the [[RPGRIP1]] protein. CRD manifests as an initial loss of colour vision (cone mediated functions) and of visual acuity, usually from the first or second decade of life, is followed by night blindness (largely rod mediated) and loss of peripheral visual fields. CRD patients also demonstrate severe photophobia.

However, a second study {{PMID|16272259|OA=1
}} studying mutations in several genes associated with visual disorders found the SNP has the same frequency in both case and control populations, indicating that this was not the causal mutation in the disease in the Pakistani group.

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}