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rs1788799

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1788799(C;G)
Make rs1788799(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position23544981
GeneNPC1
is asnp
is mentioned by
dbSNPrs1788799
dbSNP (classic)rs1788799
ClinGenrs1788799
ebirs1788799
HLIrs1788799
Exacrs1788799
Gnomadrs1788799
Varsomers1788799
LitVarrs1788799
Maprs1788799
PheGenIrs1788799
Biobankrs1788799
1000 genomesrs1788799
hgdprs1788799
ensemblrs1788799
geneviewrs1788799
scholarrs1788799
googlers1788799
pharmgkbrs1788799
gwascentralrs1788799
openSNPrs1788799
23andMers1788799
23andMe allrs1788799
SNPshotrs1788799
SNPdbers1788799
MSV3drs1788799
GWAS Ctlgrs1788799
GMAF0.1809
Max Magnitude0
? (C;C) (C;G) (G;G) 28



ClinVar
Risk rs1788799(G;G)
Alt rs1788799(G;G)
Reference Rs1788799(C;C)
Significance Other
Disease Niemann-Pick disease type C1 not specified Niemann-Pick disease
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1 not specified Niemann-Pick disease, type C
Reversed 0
HGVS NC_000018.9:g.21124945C\x3d; NC_000018.9:g.21124945C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000020225.2, RCV000078467.9, RCV000348137.1,



[PMID 18834923OA-icon.png] Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population.



[PMID 23153210OA-icon.png] Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes