rs120074118
A SNP in the SMPD1 gene on chromosome 11. Its most notable genotype is -;CGC: Carrier of a Niemann-Pick disease type A mutation
- Gene
- SMPD1
- Location
- Chr 116,394,539 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;CGCMost notableBadCarrier of a Niemann-Pick disease type A mutation
- CGC;CGCGoodcommon in clinvar
- GCC;GCCGoodcommon in clinvar
- I;IGoodcommon genotype
On SNPedia: (-;CGC), (CGC;CGC), (GCC;GCC), (I;I). 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
- rs120074117T;TNiemann-Pick Disease Type AVery important
- rs120074124C;CNiemann-Pick Disease Type AVery important
- rs387906289-;-Niemann-Pick Disease Type AVery important
- rs1050239G;Gcommon in clinvarTypical
Notes
From SNPedia
Notes
aka c.1829_1831delGCC (p.Arg610del) Niemann-Pick Disease Type A
-;CGC
Unaffected in absence of a second SMPD1 gene mutation; see text and links via main rs-page.
Source and license
Adapted from rs120074118 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.