rs387906574
A SNP in the ALDH7A1 gene on chromosome 5. Its most notable genotype is -;C: Carrier of a pyridoxine-dependent epilepsy mutation
- Gene
- ALDH7A1
- Location
- Chr 5126,544,988 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- Not on consumer chips
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;CMost notableBadCarrier of a pyridoxine-dependent epilepsy mutation
- C;CGoodcommon in clinvar
SNPedia records rs387906574 on the minus strand: (-;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other ALDH7A1 SNPs
- rs121912707C;GCarrier of a pyridoxine-dependent epilepsy mutationImportant
- rs121912708A;GCarrier of a pyridoxine-dependent epilepsy mutationImportant
- rs121912709A;GCarrier of a pyridoxine-dependent epilepsy mutationImportant
- rs121912710A;CCarrier of a pyridoxine-dependent epilepsy mutationImportant
- rs121912711A;TCarrier of a pyridoxine-dependent epilepsy mutationImportant
- rs140102105C;GCarrier of a pyridoxine-dependent epilepsy mutationImportant
- rs140845195A;CCarrier of a pyridoxine-dependent epilepsy mutationImportant
- rs144701796A;TCarrier of a pyridoxine-dependent epilepsy mutationImportant
Notes
From SNPedia
Notes
-;C
Unaffected in absence of a second mutation in the ALDH7A1 gene; see text and links via main rs-page
Source and license
Adapted from rs387906574 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.