rs28942106
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (T;T) | 0 |
| Make rs28942106(A;G) |
| Make rs28942106(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 23535683 |
| Gene | NPC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28942106 |
| dbSNP (classic) | rs28942106 |
| ClinGen | rs28942106 |
| ebi | rs28942106 |
| HLI | rs28942106 |
| Exac | rs28942106 |
| Gnomad | rs28942106 |
| Varsome | rs28942106 |
| LitVar | rs28942106 |
| Map | rs28942106 |
| PheGenI | rs28942106 |
| Biobank | rs28942106 |
| 1000 genomes | rs28942106 |
| hgdp | rs28942106 |
| ensembl | rs28942106 |
| geneview | rs28942106 |
| scholar | rs28942106 |
| rs28942106 | |
| pharmgkb | rs28942106 |
| gwascentral | rs28942106 |
| openSNP | rs28942106 |
| 23andMe | rs28942106 |
| SNPshot | rs28942106 |
| SNPdbe | rs28942106 |
| MSV3d | rs28942106 |
| GWAS Ctlg | rs28942106 |
| Max Magnitude | 0 |
| OMIM | 607623 |
| Desc | Niemann-Pick disease, TYPE C1, JUVENILE FORM |
| Variant | 0008 |
| Related | also |
| ClinVar | |
|---|---|
| Risk | rs28942106(G;G) |
| Alt | rs28942106(G;G) |
| Reference | Rs28942106(A;A) |
| Significance | Pathogenic |
| Disease | Niemann-pick disease |
| Variation | info |
| Gene | NPC1 |
| CLNDBN | Niemann-pick disease, type c1, juvenile form |
| Reversed | 1 |
| HGVS | NC_000018.9:g.21115647T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003098.3, |
relevance to ebola?
- rs28942106: C
- rs28942108: A
- rs28940897: G
Another marker linked with people's ability to survive Ebola is a gene called human leukocyte antigen-B, which makes a protein that is important in the immune system. A 2007 study found that people with certain versions of this gene, called B*07 and B*14, were more likely to survive Ebola, while people with other versions, called B*67 and B*15, were more likely to die.
[PMID 17940968
] Sequence-based human leukocyte antigen-B typing of patients infected with Ebola virus in Uganda in 2000: identification of alleles associated with fatal and nonfatal disease outcomes.
