rs147394623

A SNP in the DHDDS gene on chromosome 1. Its most notable genotype is G;G: Retinitis pigmentosa, type 59

Gene
DHDDS
Location
Chr 126,438,228 (GRCh38)
Highest magnitude
4.4Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. A;GBadCarrier of a retinitis pigmentosa (RP) mutationImportant · 3.0
  3. G;GMost notableBadRetinitis pigmentosa, type 59Very important · 4.4

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs147394623, also known as c.124A>G, p.Lys42Glu and K42E, represents a rare mutation in the DHDDS gene on chromosome 1. Inherited in an autosomal recessive manner, the rs147394623(G) allele is considered pathogenic for a form of retinitis pigmentosa (type 59 as labeled in OMIM). This mutation is one of two considered to be a prevalent retinitis pigmentosa founder mutation among Ashkenazi Jews.

A;G

Unaffected in absence of another DHDDS gene mutation; see discussion at rs147394623.

G;G

See discussion at rs147394623 and about retinitis pigmentosa. Otherwise quite rare, this mutation is considered a founder mutation among the Ashkenazi Jewish population.

Source and license

Adapted from rs147394623 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.