rs267606809
A SNP in the FGFR3 gene on chromosome 4. Its most notable genotype is G;T: Achondroplasia/dwarfism?
- Gene
- FGFR3
- Location
- Chr 41,804,384 (GRCh38)
- Highest magnitude
- 6.6Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;TMost notableBadAchondroplasia/dwarfism?
- T;TGoodcommon in clinvar
On SNPedia: (G;T), (T;T). 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
- rs75790268G;TAchondroplasia/dwarfismVery important
- rs77722678G;GHypochondroplasiaVery important
- rs121913105A;TAchondroplasia/dwarfismVery important
- rs121913114A;TAchondroplasia/dwarfismVery important
Notes
From SNPedia
Notes
rs267606809, also known as Leu377Arg, L377R, or c.1130T>G, is a mutation in the FGFR3 gene on chromosome 4. The rs267606809(G) allele has apparently only been seen once, in a severe form of achondroplasia and in cis with the rs28931614(A) G380R FGFR3 mutation; see also OMIM 134934.0027. Note that 23andMe refers to this SNP as i5001267.
G;T
See discussion at rs267606809
Source and license
Adapted from rs267606809 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.