rs120074117
A SNP in the SMPD1 gene on chromosome 11. Its most notable genotype is T;T: Niemann-Pick Disease Type A
- Gene
- SMPD1
- Location
- Chr 116,394,204 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- G;TBadNiemann-Pick Disease Type A carrier
- T;TMost notableBadNiemann-Pick Disease Type A
On SNPedia: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other SMPD1 SNPs
- i4000381C;CNiemann-Pick Disease Type AVery important
- i4000383D;DNiemann-Pick Disease Type AVery important
- i4000430T;TNiemann-Pick Disease Type AVery important
- rs120074124C;CNiemann-Pick Disease Type AVery important
- rs387906289-;-Niemann-Pick Disease Type AVery important
- rs120074118-;CGCCarrier of a Niemann-Pick disease type A mutationImportant
- rs1050239G;Gcommon in clinvarTypical
Notes
From SNPedia
Notes
aka c.1493G>T (p.Arg498Leu or R498L), and due to alternative numbering, also Arg496Leu or R496L); note that ClinVar also lists c.1493G>A (p.Arg498His or R498His, and thus equivalently, Arg496His or R496H). The first is annotated in ClinVar by multiple submitters as pathogenic for Niemann-Pick Disease type A; the latter is annotated as likely pathogenic for Niemann-Pick Disease type B. Niemann-Pick Disease Type A
Source and license
Adapted from rs120074117 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.