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rs483352880

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs483352880(-;-)
Make rs483352880(-;C)
Make rs483352880(C;C)
ReferenceGRCh38 38.1/142
Chromosome18
Position23568869
GeneNPC1
is asnp
is mentioned by
dbSNPrs483352880
ebirs483352880
HLIrs483352880
Exacrs483352880
Varsomers483352880
Maprs483352880
PheGenIrs483352880
hapmaprs483352880
1000 genomesrs483352880
hgdprs483352880
ensemblrs483352880
gopubmedrs483352880
geneviewrs483352880
scholarrs483352880
googlers483352880
pharmgkbrs483352880
gwascentralrs483352880
openSNPrs483352880
23andMers483352880
23andMe allrs483352880
SNP Nexus

SNPshotrs483352880
SNPdbers483352880
MSV3drs483352880
GWAS Ctlgrs483352880
Max Magnitude0
ClinVar
Risk rs483352880(C;C)
Alt rs483352880(C;C)
Reference rs483352880(;)
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.21148834dupG
CLNSRC ClinVar
CLNACC RCV000119338.1,