rs753107507
A SNP in the SAG gene on chromosome 2. Its most notable genotype is G;T: Retinitis pigmentosa likely
- Gene
- SAG
- Location
- Chr 2233,327,125 (GRCh38)
- Highest magnitude
- 5.5Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Notes
rs753107507, also known as c.440G>T, p.Cys147Phe and C147F, represents a rare mutation in the SAG gene on chromosome 2. A 2017 publication based on a study of 12 Hispanic families in California and Texas concluded that rs753107507(T) is a dominant mutation leading to retinitis pigmentosa. Seen in over a third of the Hispanic families in one RP cohort, the authors speculate that this mutation (the first dominant RP mutation seen in the SAG gene so far) is likely to be a founder mutation originating in Mexico several centuries ago.
G;T
see discussion at rs753107507
Source and license
Adapted from rs753107507 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.