rs863225300

A SNP in the NKX2-1-AS1 gene on chromosome 14. Its most notable genotype is G;T: Choreoathetosis, hypothyroidism, and neonatal respiratory distress

Gene
NKX2-1-AS1
Location
Chr 1436,517,960 (GRCh38)
Highest magnitude
7.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;TMost notableBadChoreoathetosis, hypothyroidism, and neonatal respiratory distressVery important · 7.0
  2. G;GGoodcommon in clinvarTypical · 0.0

SNPedia records rs863225300 on the minus strand: (A;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other NKX2-1-AS1 SNPs

All NKX2-1-AS1 SNPs

Notes

From SNPedia

Notes

aka c.524C>A (p.Ser175Ter, S175X or S175*) Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Choreoathetosis, hypothyroidism, and neonatal respiratory distress

G;T

see text and links via main rs-page

Source and license

Adapted from rs863225300 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.