rs397507168

A SNP in the HPS3 gene on chromosome 3. Its most notable genotype is A;G: Carrier of a Hermansky-Pudlak syndrome 3 mutation

Gene
HPS3
Location
Chr 3149,163,840 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. A;GMost notableBadCarrier of a Hermansky-Pudlak syndrome 3 mutationImportant · 3.0

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

Other HPS3 SNPs

All HPS3 SNPs

Notes

From SNPedia

Notes

aka c.2482-2A>G

A;G

Unaffected in absence of a second HPS3 gene mutation

Source and license

Adapted from rs397507168 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.