rs104886461

A SNP in the LOC105372261 gene on chromosome 19. Its most notable genotype is G;G: Mucolipidosis type IV

Gene
LOC105372261
Location
Chr 197,526,759 (GRCh38)
Highest magnitude
8.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodnormalTypical · 0.0
  2. A;GBadCarrier of mucolipidosis type IV mutationImportant · 3.0
  3. G;GMost notableBadMucolipidosis type IVVery important · 8.0

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

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs104886461, also known as IVS3-2A>G or IVS3-2A-G, is a mutation in the mucolipin-1 MCOLN1 gene. This SNP represents the most common mutation in Ashkenazi Jews leading to Mucolipidosis type IV, an autosomal recessive neurodegenerative lysosomal storage disorder. Somewhere between 1 in 50 and 1 in 150 individuals of Ashkenazi Jewish ancestry are estimated to be (heterozygous) carriers for this SNP. Screening of Ashkenazi Jews for carriers of this SNP is recommended by the American College of Medical Genetics (ACMG; acmg.net). See also: OMIM 605248.0001

Source and license

Adapted from rs104886461 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.