rs104894002

A SNP in the LOC105375056 gene on chromosome 6. Its most notable genotype is A;G: Alzheimer's, late-onset, possible/predicted

Gene
LOC105375056
Location
Chr 641,161,557 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GMost notableBadAlzheimer's, late-onset, possible/predictedVery important · 6.0

SNPedia records rs104894002 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Notes

From SNPedia

Notes

aka c.97C>T (p.Gln33Ter or Q33X) In 2003, researchers concluded that inheriting two copies of rs104894002(T) led to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), also known as Nasu-Hakola disease. More recently (in 2019), a publication concluded that inheriting one copy of the rs104894002(T) allele gives rise to late-onset Alzheimer's disease, with this variant appearing to be a fully penetrant mutation among persons surviving to late age (although the authors admit that this is speculative, given the low number of patients known to date).

A;G

see text on main rs-page

Source and license

Adapted from rs104894002 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.