rs28931614
A SNP in the FGFR3 gene on chromosome 4. Its most notable genotype is A;G: Achondroplasia/dwarfism
- Gene
- FGFR3
- Location
- Chr 41,804,392 (GRCh38)
- Highest magnitude
- 6.6Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadAchondroplasia/dwarfism
- C;GBadAchondroplasia/dwarfism
- G;GGoodcommon in clinvar
On SNPedia: (A;G), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other FGFR3 SNPs
- i5001264A;TAchondroplasia/dwarfismVery important
- i5001267G;TAchondroplasia/dwarfism?Very important
- i5001274A;TAchondroplasia/dwarfismVery important
- rs75790268G;TAchondroplasia/dwarfismVery important
- rs77722678G;GHypochondroplasiaVery important
- rs121913105A;TAchondroplasia/dwarfismVery important
- rs121913114A;TAchondroplasia/dwarfismVery important
- rs267606809G;TAchondroplasia/dwarfism?Very important
Notes
From SNPedia
Notes
rs28931614, also known as G380R, Gly380Arg, and c.1138G>A, is a SNP in the fibroblast growth factor receptor 3 FGFR3 gene on chromosome 4. As an autosomal dominant mutation, the rs28931614(A) allele causes achondroplasia, a form of dwarfism. A more rare change at this SNP, c.1138G>C (rather than G>A), also leads to achondroplasia; it is referred to as i6010295 by 23andMe.
A;G
see discussion at rs28931614
C;G
See discussion at rs28931614
Source and license
Adapted from rs28931614 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.