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rs28942106

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28942106(A;G)
Make rs28942106(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position23535683
GeneNPC1
is asnp
is mentioned by
dbSNPrs28942106
ebirs28942106
HLIrs28942106
Exacrs28942106
Varsomers28942106
Maprs28942106
PheGenIrs28942106
hapmaprs28942106
1000 genomesrs28942106
hgdprs28942106
ensemblrs28942106
gopubmedrs28942106
geneviewrs28942106
scholarrs28942106
googlers28942106
pharmgkbrs28942106
gwascentralrs28942106
openSNPrs28942106
23andMers28942106
23andMe allrs28942106
SNP Nexus

SNPshotrs28942106
SNPdbers28942106
MSV3drs28942106
GWAS Ctlgrs28942106
Max Magnitude0
OMIM607623
DescNiemann-Pick disease, TYPE C1, JUVENILE FORM
Variant0008
Relatedalso
Neighborrs28942105
Distance204


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
CLNACC RCV000003098.3,



relevance to ebola?

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.