rs772724819

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

Gene
SNX10
Location
Chr 726,364,636 (GRCh38)
Highest magnitude
5.8Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GGoodcommon/normalTypical · 0.0
  2. G;TBadCarrier of a pathogenic mutation for osteopetrosisImportant · 3.0
  3. T;TMost notableBadOsteopetrosis, type 8Very important · 5.8

On SNPedia: (G;G), (G;T), (T;T). 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

rs772724819, also known as c.212+1G>T, is a rare variant in the SNX10 gene. rs772724819(T) is considered a recessively inherited mutation pathogenic for osteopetrosis, type 8. In Northern Sweden, a study of nine individuals with this mutation showed (via haplotype analysis) that all cases originated from a single mutational event, and the age of the mutation was estimated to be approximately 950 years.

G;T

Unaffected in absence of a second mutation in the SNX10 gene

T;T

see ClinVar sidebar on SNP page

Source and license

Adapted from rs772724819 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.