rs119483085

A SNP in the NDRG1 gene on chromosome 8. Its most notable genotype is A;A: Charcot Marie Tooth disease

Gene
NDRG1
Location
Chr 8133,258,374 (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;GBadcarrier of one Charcot Marie Tooth disease alleleImportant · 3.0
  3. A;AMost notableBadCharcot Marie Tooth diseaseVery important · 6.0

SNPedia records rs119483085 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other NDRG1 SNPs

All NDRG1 SNPs

Notes

From SNPedia

Notes

rs119483085, also known as c.442C>T, p.Arg148Ter and R148X, is a mutation in the NDRG1 gene on chromosome 8. The rare rs119483085(T) allele, when inherited recessively (i.e. in two copies), is reported to be causative for Charcot-Marie-Tooth disease, type 4D. See OMIM 605262.0001 for more details. This SNP is referred to as i5008730 by 23andMe, which represents it on the plus strand.

A;G

see discussion at rs119483085

A;A

see discussion at rs119483085

Source and license

Adapted from rs119483085 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.