rs10151259
A SNP in the RPGRIP1 gene on chromosome 14. Its most notable genotype is T;T: Recessive genotype uncertain pathogenicity
- Gene
- RPGRIP1
- Location
- Chr 1421,321,881 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 16%
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- G;TBadUnaffected carrier of *possible* cone-rod mutation
- T;TMost notableBadRecessive genotype uncertain pathogenicity
On SNPedia: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageG;G 78% G;T 19% T;T 3%
- European ancestry (Utah)G;G 60% G;T 37% T;T 3%
- Han Chinese (Beijing)G;G 100% G;T 0% T;T 0%
- Japanese (Tokyo)G;G 100% G;T 0% T;T 0%
- Yoruba (Nigeria)G;G 50% G;T 40% T;T 10%
Related
Notes
From SNPedia
Show notes, about 280 words
This SNP has been associated with recessive cone-rod dystrophy but is probably benign: A study 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 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.
G;T
see discussion at rs10151259
T;T
A study 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 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.
References
Source and license
Adapted from rs10151259 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.