rs281865360

A SNP in the RS1 gene on chromosome X. Its most notable genotype is C;C: X-linked retinoschisis

Gene
RS1
Location
Chr X18,642,058 (GRCh38)
Highest magnitude
5.0Very important
Tested on
Not on consumer chips

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon/normalTypical · 0.0
  2. C;GBadX-linked retinoschisis mutation carrierImportant · 3.0
  3. C;CMost notableBadX-linked retinoschisisVery important · 5.0

SNPedia records rs281865360 on the minus strand: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

rs281865360, also known as c.621C>G, p.His207Gln and H207Q, represents a rare mutation in the RS1 gene, located on the X chromosome. The H207Q mutation is considered to cause X-linked retinoschisis (XLRS), a monogenic form of macular degeneration, inherited as an X-linked dominant condition. However, in contrast to other X-linked inherited retinal dystrophies, such as retinitis pigmentosa or choroideremia, female carriers (i.e. those with only one mutant allele) may have normal retinal function.

C;G

see rs281865360; females unlikely to be affected

C;C

see rs281865360; this form of macular degeneration and resulting potential for blindness may not present until mid-life.

Source and license

Adapted from rs281865360 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.