rs398123011

A SNP in the SNX10 gene on chromosome 7. Its most notable genotype is A;A: Osteopetrosis, type 8

Gene
SNX10
Location
Chr 726,364,575 (GRCh38)
Highest magnitude
5.8Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadOsteopetrosis, type 8Very important · 5.8
  2. A;GBadCarrier of a pathogenic mutation for osteopetrosisImportant · 3.0
  3. G;GGoodcommon in clinvarTypical · 0.0

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

Conditions, medicines and genes

Other SNX10 SNPs

All SNX10 SNPs

Notes

From SNPedia

Notes

SNX10 gene, c.152G>A (p.Arg51Gln) rs398123011(A) is considered a recessively inherited mutation pathogenic for osteopetrosis, type 8.

A;A

see ClinVar sidebar on SNP page

A;G

Unaffected in absence of a second mutation in the SNX10 gene

Source and license

Adapted from rs398123011 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.