rs200067423
A SNP in the TTC37 gene on chromosome 5. Its most notable genotype is A;A: Trichohepatoenteric syndrome
- Gene
- TTC37
- Location
- Chr 595,467,979 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadTrichohepatoenteric syndrome
- A;GBadCarrier of a trichohepatoenteric syndrome mutation
- G;GGoodcommon/normal
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Notes
TTC37 gene mutation, also known as c.4507C>T, p.Arg1503Cys and R1503C Exome sequencing led to the conclusion published in 2017 that rs200067423(A), as oriented in dbSNP, is a recessively inherited, rare mutation leading to trichohepatoenteric syndrome (THE-S), a diarrhea of infancy characterised by severe infantile diarrhea, facial dysmorphism, immunodeficiency and woolly hair.
A;A
see rs200067423
A;G
Unaffected in absence of a second mutation in the TTC37 gene; see rs200067423
Source and license
Adapted from rs200067423 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.