rs117447608

A SNP in the AHI1 gene on chromosome 6. Its most notable genotype is A;G: Pathogenicity unclear; possible carrier of a Joubert syndrome mutation

Gene
AHI1
Location
Chr 6135,318,577 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadPathogenicity unclear; possible carrier of a Joubert syndrome mutationWorth knowing · 2.0
  2. G;GGoodcommon in clinvarTypical · 0.0

On SNPedia: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other AHI1 SNPs

All AHI1 SNPs

Notes

From SNPedia

Show notes, about 170 words

rs117447608, also known as c.3368C>T, p.Ser1123Phe and S1123F, represents a variant in the AHI1 gene on chromosome 6. The frequency of the minor allele is around 0.5% - 1% in most populations. The minor allele, rs117447608(A) in dbSNP orientation, is reported as a "likely pathogenic" mutation in a 2014 publication, in which it was seen together with another AHI1 gene variant, C854F, in a 4 year old patient diagnosed as having autosomal recessive Joubert's syndrome type 3. Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in 100,000 newborns, but may be underdiagnosed.(ghr.nlm.nih.gov) A frequency of 1% for rs117447608(A) would appear to be too high to be consistent with a highly penetrant mutation for a Joubert syndrome subtype, so this variant probably awaits further study and clarification as to it's pathogenicity if any.

A;G

Unaffected in absence of another AHI1 gene mutation, and even then, see rs117447608 for a discussion of whether the minor allele is pathogenic at all.

Source and license

Adapted from rs117447608 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.