rs140629318
A SNP in the ACADVL gene on chromosome 17. Its most notable genotype is A;G: Carrier of a (likely) VLCAD mutation
- Gene
- ACADVL
- Location
- Chr 177,221,966 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadCarrier of a (likely) VLCAD mutation
- C;GBadCarrier of a (likely) VLCAD mutation
- G;GGoodcommon in clinvar
On SNPedia: (A;G), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other ACADVL SNPs
- rs113994167C;CVLCAD deficiency (predicted)Very important
- rs2309689A;GCarrier of a VLCAD deficiency mutationImportant
- rs113994168C;TCarrier of a ACADVL gene mutationImportant
- rs118204015A;CCarrier of a VLCAD deficiency mutationImportant
- rs118204017C;TCarrier of a VLCAD deficiency mutationImportant
- rs140989450G;TCarrier of a VLCAD deficiency mutationImportant
- rs200788251A;GCarrier of a VLCAD deficiency mutationImportant
- rs387906249-;GCarrier of a VLCAD deficiency mutationImportant
Notes
From SNPedia
Notes
aka c.637G>A (p.Ala213Thr or A213T) as well as c.637G>C (p.Ala213Pro A213P) While consensus in ClinVar and other databases leans toward both being pathogenic very long chain acyl-CoA dehydrogenase deficiency mutations, there is some uncertainty over this, and some submitters prefer to consider both as 'variants of uncertain significance'.
A;G
Unaffected in absence of a second ACADVL gene mutation; see text on main rs-page
C;G
Unaffected in absence of a second ACADVL gene mutation; see text on main rs-page
Source and license
Adapted from rs140629318 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.