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rs483352881

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs483352881(-;-)
Make rs483352881(-;G)
Make rs483352881(G;G)
ReferenceGRCh38 38.1/142
Chromosome18
Position23541376
GeneNPC1
is asnp
is mentioned by
dbSNPrs483352881
ebirs483352881
HLIrs483352881
Exacrs483352881
Varsomers483352881
Maprs483352881
PheGenIrs483352881
hapmaprs483352881
1000 genomesrs483352881
hgdprs483352881
ensemblrs483352881
gopubmedrs483352881
geneviewrs483352881
scholarrs483352881
googlers483352881
pharmgkbrs483352881
gwascentralrs483352881
openSNPrs483352881
23andMers483352881
23andMe allrs483352881
SNP Nexus

SNPshotrs483352881
SNPdbers483352881
MSV3drs483352881
GWAS Ctlgrs483352881
Max Magnitude0
ClinVar
Risk rs483352881(G;G)
Alt rs483352881(G;G)
Reference rs483352881(;)
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.21121341dupC
CLNSRC ClinVar
CLNACC RCV000119334.1,