rs104894347
A SNP in the FGF23 gene on chromosome 12. Its most notable genotype is C;T: Autosomal dominant hypophosphatemic rickets (predicted)
- Gene
- FGF23
- Location
- Chr 124,370,572 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadAutosomal dominant hypophosphatemic rickets (predicted)
- C;CGoodcommon in clinvar
SNPedia records rs104894347 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other FGF23 SNPs
- rs28937882A;GAutosomal dominant hypophosphatemic rickets (predicted)Very important
- rs193922701C;GAutosomal dominant hypophosphatemic rickets (predicted)Very important
- rs193922702C;TAutosomal dominant hypophosphatemic rickets (predicted)Very important
- rs104894342C;TCarrier of a tumoral calcinosis mutationImportant
- rs104894343A;GCarrier of a tumoral calcinosis mutationImportant
- rs104894344A;GCarrier of a tumoral calcinosis mutationImportant
- rs863224872C;TCarrier of a tumoral calcinosis mutationImportant
- rs1220533001C;GCarrier of a tumoral calcinosis mutationImportant
Notes
From SNPedia
Notes
aka c.527G>A (p.Arg176Gln or R176Q)
C;T
Treatable condition; see text and links via main rs-page
Source and license
Adapted from rs104894347 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.