rs104894867
A SNP in the NDP gene on chromosome X. Its most notable genotype is C;G: Carrier of a Norrie disease mutation
- Gene
- NDP
- Location
- Chr X43,949,932 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GNot ratedLikely miscall in LivingDNA data
- C;GMost notableBadCarrier of a Norrie disease mutation
- C;CGoodcommon in clinvar
SNPedia records rs104894867 on the minus strand: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Notes
aka c.269G>C (p.Arg90Pro or R90P)
C;G
Unaffected in absence of a second NDP gene mutation; note risk for sons due to X-linkage
Source and license
Adapted from rs104894867 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.