rs121909626

A SNP in the FLG gene on chromosome 1. Its most notable genotype is C;G: Ichthyosis vulgaris (dry, scaly skin)

Gene
FLG
Location
Chr 1152,307,225 (GRCh38)
Highest magnitude
4.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. C;GMost notableBadIchthyosis vulgaris (dry, scaly skin)Very important · 4.0

SNPedia records rs121909626 on the minus strand: (C;C), (C;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other FLG SNPs

All FLG SNPs

Notes

From SNPedia

Show notes, about 150 words

aka c.7661C>G (p.Ser2554Ter) Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis In affected members of 2 unrelated Japanese families with ichthyosis vulgaris who were negative for previously identified null mutations in the FLG gene, heterozygosity for a 7661C-G transversion in exon 3 of the FLG gene was identified, resulting in a Ser2554-to-ter (S2554X) substitution, predicted to cause premature termination of profilaggrin translation in the filaggrin repeat domain 7. One indiviual who had a severe presentation of the disease, was found to be homozygous for S2554X. 143 Japanese patients with atopic dermatitis from 140 unrelated families were screened for this null mutation with S2554X identified in 6 patients. The mutation was not found in 156 unrelated nonatopic and nonichthyotic Japanese controls.

C;G

see text and links via main rs-page

Source and license

Adapted from rs121909626 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.