Have questions? Visit https://www.reddit.com/r/SNPedia

rs115799546

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Carrier of a possible mutation causing multiple sclerosis and malignant melanoma
(T;T) 7 Multiple sclerosis/malignant melanoma mutation genotype
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position5558964
GeneNLRP1
is asnp
is mentioned by
dbSNPrs115799546
dbSNP (old)rs115799546
ClinGenrs115799546
ebirs115799546
HLIrs115799546
Exacrs115799546
Gnomadrs115799546
Varsomers115799546
Maprs115799546
PheGenIrs115799546
Biobankrs115799546
1000 genomesrs115799546
hgdprs115799546
ensemblrs115799546
gopubmedrs115799546
geneviewrs115799546
scholarrs115799546
googlers115799546
pharmgkbrs115799546
gwascentralrs115799546
openSNPrs115799546
23andMers115799546
23andMe allrs115799546
SNPshotrs115799546
SNPdbers115799546
MSV3drs115799546
GWAS Ctlgrs115799546
Max Magnitude7
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.[PMID 28623311OA-icon.png]