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rs483352879

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483352879(-;-)
Make rs483352879(-;C)
ReferenceGRCh38 38.1/142
Chromosome18
Position23545107
GeneNPC1
is asnp
is mentioned by
dbSNPrs483352879
ebirs483352879
HLIrs483352879
Exacrs483352879
Varsomers483352879
Maprs483352879
PheGenIrs483352879
hapmaprs483352879
1000 genomesrs483352879
hgdprs483352879
ensemblrs483352879
gopubmedrs483352879
geneviewrs483352879
scholarrs483352879
googlers483352879
pharmgkbrs483352879
gwascentralrs483352879
openSNPrs483352879
23andMers483352879
23andMe allrs483352879
SNP Nexus

SNPshotrs483352879
SNPdbers483352879
MSV3drs483352879
GWAS Ctlgrs483352879
Max Magnitude0
ClinVar
Risk rs483352879(;)
Alt rs483352879(;)
Reference rs483352879(C;C)
Significance Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21125071delG
CLNSRC ClinVar
CLNACC RCV000119328.1,