rs368313959

A SNP in the OTUD6B gene on chromosome 8. Its most notable genotype is T;T: Intellectual disabilty syndrome with seizures and dysmorphias

Gene
OTUD6B
Location
Chr 891,078,383 (GRCh38)
Highest magnitude
8.1Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon/normalTypical · 0.0
  2. C;TBadCarrier for a mutation associated with an intellectual disability syndromeImportant · 3.0
  3. T;TMost notableBadIntellectual disabilty syndrome with seizures and dysmorphiasVery important · 8.1

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

Notes

From SNPedia

Notes

aka c.433C>T, p.Arg145* or R145X Reported in as leading to an intellectual disability syndrome associated with seizures and dysmorphic features when inherited recessively.

C;T

Unaffected in absence of another OTUD6B gene mutation; see discussion at rs368313959

T;T

see discussion at rs368313959

Source and license

Adapted from rs368313959 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.