rs113994167
A SNP in the ACADVL gene on chromosome 17. Its most notable genotype is C;C: VLCAD deficiency (predicted)
- Gene
- ACADVL
- Location
- Chr 177,222,272 (GRCh38)
- Highest magnitude
- 6.1Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadVLCAD deficiency (predicted)
- C;TBadCarrier of a VLCAD deficiency mutation
- T;TGoodcommon in clinvar
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other ACADVL SNPs
- 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
- rs140629318A;GCarrier of a (likely) VLCAD 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.848T>C (p.Val283Ala or V283A) See ACADVL; this variant is considered one of the most prevalent mutations associated with VLCAD deficiency.
C;C
see text and links via main rs-page
C;T
Unaffected in absence of a second ACADVL gene mutation
Source and license
Adapted from rs113994167 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.