rs773876739

A SNP in the SEPSECS gene on chromosome 4. Its most notable genotype is C;C: Pontocerebellar hypoplasia type 2D

Gene
SEPSECS
Location
Chr 425,123,971 (GRCh38)
Highest magnitude
9.0Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableBadPontocerebellar hypoplasia type 2DVery important · 9.0
  2. C;TBadCarrier of a Pontocerebellar hypoplasia type 2D mutationImportant · 3.0
  3. T;TGoodcommon in clinvarTypical · 0.0

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

Conditions, medicines and genes

Other SEPSECS SNPs

All SEPSECS SNPs

Notes

From SNPedia

Notes

SEPSECS gene mutation, known as c.1466A>T, p.Asp489Val or D489V; considered pathogenic in ClinVar for Pontocerebellar hypoplasia type 2D

C;C

see Pontocerebellar hypoplasia type 2D and SEPSECS gene

C;T

Unaffected carrier in absence of a second mutation; see SEPSECS gene and Pontocerebellar hypoplasia type 2D.

Source and license

Adapted from rs773876739 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.