rs115799546
A SNP in the NLRP1 gene on chromosome 17. Its most notable genotype is T;T: Multiple sclerosis/malignant melanoma mutation genotype
- Gene
- NLRP1
- Location
- Chr 175,558,964 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon/normal
- C;TBadCarrier of a possible mutation causing multiple sclerosis and malignant melanoma
- T;TMost notableBadMultiple sclerosis/malignant melanoma mutation genotype
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Notes
rs115799546, also known as c.1732G>A, p.Gly578Ser and G578S, represents a rare mutation in the NLRP1 gene on chromosome 17. Based on exome sequencing of a family with two sibs affected by multiple sclerosis and malignant melanoma, a 2017 publication concluded that when inherited recessively, the rs115799546(T) allele (in dbSNP orientation) may cause both conditions.
C;T
Unaffected in absence of a second NLRP1 gene mutation; note also preliminary nature of association. See discussion at rs115799546.
T;T
See discussion at rs115799546
Source and license
Adapted from rs115799546 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.