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rs483352883

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs483352883(-;-)
Make rs483352883(-;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position23556539
GeneNPC1
is asnp
is mentioned by
dbSNPrs483352883
ebirs483352883
HLIrs483352883
Exacrs483352883
Varsomers483352883
Maprs483352883
PheGenIrs483352883
hapmaprs483352883
1000 genomesrs483352883
hgdprs483352883
ensemblrs483352883
gopubmedrs483352883
geneviewrs483352883
scholarrs483352883
googlers483352883
pharmgkbrs483352883
gwascentralrs483352883
openSNPrs483352883
23andMers483352883
23andMe allrs483352883
SNP Nexus

SNPshotrs483352883
SNPdbers483352883
MSV3drs483352883
GWAS Ctlgrs483352883
Max Magnitude0
ClinVar
Risk rs483352883(;)
Alt rs483352883(;)
Reference rs483352883(T;T)
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.21136503delA
CLNSRC ClinVar
CLNACC RCV000119325.1,