rs367543046
A SNP in the FH gene on chromosome 1. Its most notable genotype is AAA;AAA: Fumarase deficiency (predicted)
- Gene
- FH
- Location
- Chr 1241,497,927 (GRCh38)
- Highest magnitude
- 8.8Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Goodcommon in clinvar
- -;AAABadCarrier of a fumarase deficiency mutation
- AAA;AAAMost notableBadFumarase deficiency (predicted)
On SNPedia: (-;-), (-;AAA), (AAA;AAA). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other FH SNPs
- rs75086406C;GAssociated with leiomyomatosis and possibly renal cell cancerVery important
- rs121913120A;GHereditary leiomyomatosis and renal cell cancerVery important
- rs121913121G;TAssociated with leiomyomatosis and possibly renal cell cancerVery important
- rs121913122A;GHereditary leiomyomatosis and renal cell cancerVery important
- rs121913123C;TAssociated with leiomyomatosis and possibly renal cell cancerVery important
- rs387906546G;TAssociated with leiomyomatosis and possibly renal cell cancerVery important
- rs398123160A;GHereditary leiomyomatosis and renal cell cancerVery important
- rs398123163-;THereditary leiomyomatosis and renal cell cancerVery important
Notes
From SNPedia
Notes
Known as c.1431_1433dupAAA or p.Lys477dup, or due to earlier numbering differences also as 1302insAAA, 435insAAA, 435insK, 1433insAAA, and insK477, this insertion mutation in the FH gene on chromosome 1 is reported to be the most frequently mutation associated with fumarase deficiency, a very rare, primarily recessively inherited disorder.
-;AAA
Unaffected in absence of another mutation in the FH gene; see links via rs367543046 page including sidebars.
AAA;AAA
See links via rs367543046 and sidebars.
Source and license
Adapted from rs367543046 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.