rs80338683
A SNP in the FLCN gene on chromosome 17. Its most notable genotype is -;G: Birt-Hogg-Dube syndrome
- Gene
- FLCN
- Location
- Chr 1717,216,395 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;GMost notableBadBirt-Hogg-Dube syndrome
- G;GGoodcommon in clinvar
SNPedia records rs80338683 on the minus strand: (-;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other FLCN SNPs
- rs80338682-;GBirt-Hogg-Dube SyndromeVery important
- rs137852929G;TBirt-Hogg-Dube SyndromeVery important
- rs368778627C;TBirt-Hogg-Dube SyndromeVery important
- rs398124524A;GBirt-Hogg-Dube SyndromeVery important
- rs398124525-;GBirt-Hogg-Dube SyndromeVery important
- rs398124526-;GBirt-Hogg-Dube SyndromeVery important
- rs398124527-;ABirt-Hogg-Dube SyndromeVery important
- rs398124530C;TBirt-Hogg-Dube SyndromeVery important
Notes
From SNPedia
Notes
rs80338683, also known as c.1285delC and p.His429Thrfs, represents a rare mutation in the FLCN gene on chromosome 17. The rare alternative allele has been linked to Birt-Hogg-Dube syndrome. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome.
-;G
see discussion at Birt-Hogg-Dube syndrome
Source and license
Adapted from rs80338683 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.