rs75790268
A SNP in the FGFR3 gene on chromosome 4. Its most notable genotype is G;T: Achondroplasia/dwarfism
- Gene
- FGFR3
- Location
- Chr 41,804,377 (GRCh38)
- Highest magnitude
- 6.6Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;TMost notableBadAchondroplasia/dwarfism
- G;GGoodcommon in clinvar
SNPedia records rs75790268 on the minus strand: (A;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 FGFR3 SNPs
- i5001264A;TAchondroplasia/dwarfismVery important
- i5001267G;TAchondroplasia/dwarfism?Very important
- i5001274A;TAchondroplasia/dwarfismVery important
- rs28931614A;GAchondroplasia/dwarfismVery important
- rs77722678G;GHypochondroplasiaVery important
- rs121913105A;TAchondroplasia/dwarfismVery important
- rs121913114A;TAchondroplasia/dwarfismVery important
- rs267606809G;TAchondroplasia/dwarfism?Very important
Notes
From SNPedia
Notes
rs75790268, also known as Gly375Cys or G375C, is a mutation in the FGFR3 gene on chromosome 4. Acting in an autosomal dominant manner, the rs75790268(A) allele, in dbSNP orientation, is considered to cause achondroplasia; see also OMIM 134934.0003 Note that 23andMe refers to this SNP as i5053815, i5001280 and i6010281. FTDNA & MyHeritage name: VG04S25864
G;T
See discussion at rs75790268
Source and license
Adapted from rs75790268 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.