Have questions? Visit https://www.reddit.com/r/SNPedia

rs483352884

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs483352884(-;-)
Make rs483352884(-;A)
Make rs483352884(A;A)
ReferenceGRCh38 38.1/142
Chromosome18
Position23539810
GeneNPC1
is asnp
is mentioned by
dbSNPrs483352884
ebirs483352884
HLIrs483352884
Exacrs483352884
Varsomers483352884
Maprs483352884
PheGenIrs483352884
hapmaprs483352884
1000 genomesrs483352884
hgdprs483352884
ensemblrs483352884
gopubmedrs483352884
geneviewrs483352884
scholarrs483352884
googlers483352884
pharmgkbrs483352884
gwascentralrs483352884
openSNPrs483352884
23andMers483352884
23andMe allrs483352884
SNP Nexus

SNPshotrs483352884
SNPdbers483352884
MSV3drs483352884
GWAS Ctlgrs483352884
Max Magnitude0
ClinVar
Risk rs483352884(A;A)
Alt rs483352884(A;A)
Reference rs483352884(;)
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.21119775dupT
CLNSRC ClinVar
CLNACC RCV000119336.1,