rs121918237

A SNP in the SLC34A3 gene on chromosome 9. Its most notable genotype is A;G: carrier of one hypophosphatemic bone disease allele

Gene
SLC34A3
Location
Chr 9137,233,234 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

On SNPedia: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

rs121918237, also known as c.586G>A, p.Gly196Arg and G196R, represents a rare mutation in the SLC34A3 gene on chromosome 9. This is a very rare minor allele; observed only 2 times out of 26568 alleles in ExAC, 0 homozygotes, and a MAF of 0.000075. A report published in 2006 indicates that the rare (A) allele was one of two compound heterozygote mutations inherited in recessive fashion together that led to hypophosphatemic bone disease. See also OMIM 609826.0006

A;G

see discussion at rs121918237

Source and license

Adapted from rs121918237 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.