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rs483352890

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483352890(C;C)
Make rs483352890(C;G)
ReferenceGRCh38 38.1/142
Chromosome18
Position23543523
GeneNPC1
is asnp
is mentioned by
dbSNPrs483352890
ebirs483352890
HLIrs483352890
Exacrs483352890
Varsomers483352890
Maprs483352890
PheGenIrs483352890
hapmaprs483352890
1000 genomesrs483352890
hgdprs483352890
ensemblrs483352890
gopubmedrs483352890
geneviewrs483352890
scholarrs483352890
googlers483352890
pharmgkbrs483352890
gwascentralrs483352890
openSNPrs483352890
23andMers483352890
23andMe allrs483352890
SNP Nexus

SNPshotrs483352890
SNPdbers483352890
MSV3drs483352890
GWAS Ctlgrs483352890
Max Magnitude0
ClinVar
Risk rs483352890(C;C)
Alt rs483352890(C;C)
Reference rs483352890(G;G)
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.21123487C>G
CLNSRC ClinVar
CLNACC RCV000119332.1,