rs398122970

A SNP in the HES7 gene on chromosome 17. Its most notable genotype is AAACCGCCCC;AAACCGCCCC: Possible miscall in Ancestry v2 data; otherwise, congenital heart and spine defects likely

Gene
HES7
Location
Chr 178,121,854 (GRCh38)
Highest magnitude
8.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;-Goodcommon in clinvarTypical · 0.0
  2. -;AAACCGCCCCBadPossible miscall in Ancestry v2 data; otherwise, carrier of a mutation leading to congenital heart and spine defectsImportant · 3.0
  3. AAACCGCCCC;AAACCGCCCCMost notableBadPossible miscall in Ancestry v2 data; otherwise, congenital heart and spine defects likelyVery important · 8.0

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

Notes

From SNPedia

Notes

rs398122970, also known as c.385_394dupAAACCGCCCC or c.400_409dupAAACCGCCCC, represents a rare mutation in the HES7 gene on chromosome 17. Inherited as an autosomal recessive, the minor allele (containing the duplication) is reported as causative for spondylocostal dysostosis and dextrocardia with situs inversus, basically congenital defects in vertebral, heart and neural tube formation.

-;AAACCGCCCC

Unaffected in absence of another pathogenic HES7 gene mutation; see rs398122970

AAACCGCCCC;AAACCGCCCC

see rs398122970

Source and license

Adapted from rs398122970 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.