rs115799546
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 17 |
| Position | 5558964 |
| Gene | NLRP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs115799546 |
| dbSNP (classic) | rs115799546 |
| ClinGen | rs115799546 |
| ebi | rs115799546 |
| HLI | rs115799546 |
| Exac | rs115799546 |
| Gnomad | rs115799546 |
| Varsome | rs115799546 |
| LitVar | rs115799546 |
| Map | rs115799546 |
| PheGenI | rs115799546 |
| Biobank | rs115799546 |
| 1000 genomes | rs115799546 |
| hgdp | rs115799546 |
| ensembl | rs115799546 |
| geneview | rs115799546 |
| scholar | rs115799546 |
| rs115799546 | |
| pharmgkb | rs115799546 |
| gwascentral | rs115799546 |
| openSNP | rs115799546 |
| 23andMe | rs115799546 |
| SNPshot | rs115799546 |
| SNPdbe | rs115799546 |
| MSV3d | rs115799546 |
| GWAS Ctlg | rs115799546 |
| Max Magnitude | 7 |
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 28623311
]
