rs121908287

A SNP in the FIG4 gene on chromosome 6. Its most notable genotype is C;C: homozygote for I41T partial function variant

Gene
FIG4
Location
Chr 6109,715,133 (GRCh38)
Highest magnitude
4.0Very important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableNot ratedhomozygote for I41T partial function variantVery important · 4.0
  2. C;TNot ratedcarrier for I41T partial function variantMinor · 1.0
  3. T;TGoodnormalTypical · 0.0

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

Conditions, medicines and genes

Other FIG4 SNPs

All FIG4 SNPs

Notes

From SNPedia

Notes

rs121908287, also known as I41T, is a SNP in the FIG4 gene that encodes a variation for an amino acid that is normally conserved in many species (from yeast to humans). The common allele is rs121908287(T), encoding the isoleucine at this position; the very rare rs121908287(C) encodes a threonine. rs121908287(C) apparently gives rise to a partial loss of function that is pathogenic in combination with a null allele of FIG4, leading these compound heterozygotes to Charcot-Marie-Tooth disease, Type 4J (OMIM 611228).

Source and license

Adapted from rs121908287 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.