rs398122850

A SNP in the ZIC3 gene on chromosome X. Its most notable genotype is GCCGCC;GCCGCC: VACTERL association with hydrocephaly, X-linked

Gene
ZIC3
Location
Chr X137,566,856 (GRCh38)
Highest magnitude
6.6Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;-Goodcommon in clinvarTypical · 0.0
  2. -;GCCGCCBadCarrier of an X-linked VACTERL association with hydrocephaly mutationImportant · 3.0
  3. GCCGCC;GCCGCCMost notableBadVACTERL association with hydrocephaly, X-linkedVery important · 6.6

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

Notes

From SNPedia

Notes

c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla)

-;GCCGCC

Unaffected in absence of another mutation in the ZIC3 gene

GCCGCC;GCCGCC

see links to ClinVar and OMIM via rs398122850 page

Source and license

Adapted from rs398122850 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.