rs149989682
A SNP in the ABCA3 gene on chromosome 16. Its most notable genotype is A;A: Surfactant metabolism dysfunction, pulmonary, 3; severe neonatal condition
- Gene
- ABCA3
- Location
- Chr 162,317,763 (GRCh38)
- Highest magnitude
- 9.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadSurfactant metabolism dysfunction, pulmonary, 3; severe neonatal condition
- A;TBadCarrier of severe neonatal mutation, for surfactant metabolism dysfunction
- T;TGoodcommon in clinvar
On SNPedia: (A;A), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Notes
rs149989682, also known as c.875A>T, p.Glu292Val and E292V, represents a rare mutation in the ABCA3 gene on chromosome 16. Inherited as an autosomal recessive, the rs149989682(A) allele - as oriented in dbSNP orientation - is considered pathogenic in ClinVar (and BabySeq) for surfactant metabolism dysfunction, pulmonary, type 3, a disorder involving severe neonatal distress that often results in the death of a newborn within the first month. Note potential for ambiguous flip confusion.
A;A
see rs149989682
A;T
Unaffected in absence of another pathogenic ABCA3 mutation; see rs149989682
Source and license
Adapted from rs149989682 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.