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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
ebirs1788799
HLIrs1788799
Exacrs1788799
Varsomers1788799
Maprs1788799
PheGenIrs1788799
hapmaprs1788799
1000 genomesrs1788799
hgdprs1788799
ensemblrs1788799
gopubmedrs1788799
geneviewrs1788799
scholarrs1788799
googlers1788799
pharmgkbrs1788799
gwascentralrs1788799
openSNPrs1788799
23andMers1788799
23andMe allrs1788799
SNP Nexus

SNPshotrs1788799
SNPdbers1788799
MSV3drs1788799
GWAS Ctlgrs1788799
GMAF0.1809
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene NPC1
allele G
frequency 0.667
sift TOLERATED
HuRef 1103645153888
Disease Association Defects in NPC1 are the cause of Niemann-Pick disease type D (NPD) (MIM:257220); also known as Niemann-Pick disease without sphingomyelinase deficiency, or Nova Scotian type. Because of evidence from biochemical changes, lack of complementation, and linkage mapping to the same chromosome site, NPD and NPC1 are considered to be allelic disorders.



ClinVar
Risk rs1788799(G;G)
Alt rs1788799(G;G)
Reference rs1788799(C;C)
Significance Other
Disease Niemann-Pick disease type C1 not specified
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1 not specified
Reversed 0
HGVS NC_000018.9:g.21124945C\x3d; NC_000018.9:g.21124945C>G
CLNSRC ClinVar GeneReviews Emory University University of Chicago
CLNACC RCV000020225.2, RCV000078467.7,



[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.


GET Evidence
NPC1-M642I
aa_change Met642Ile
aa_change_short M642I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.737591
summary



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