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rs483352891

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483352891(A;A)
Make rs483352891(A;G)
ReferenceGRCh38 38.1/142
Chromosome18
Position23541313
GeneNPC1
is asnp
is mentioned by
dbSNPrs483352891
ebirs483352891
HLIrs483352891
Exacrs483352891
Varsomers483352891
Maprs483352891
PheGenIrs483352891
hapmaprs483352891
1000 genomesrs483352891
hgdprs483352891
ensemblrs483352891
gopubmedrs483352891
geneviewrs483352891
scholarrs483352891
googlers483352891
pharmgkbrs483352891
gwascentralrs483352891
openSNPrs483352891
23andMers483352891
23andMe allrs483352891
SNP Nexus

SNPshotrs483352891
SNPdbers483352891
MSV3drs483352891
GWAS Ctlgrs483352891
Max Magnitude0
ClinVar
Risk rs483352891(A;A)
Alt rs483352891(A;A)
Reference rs483352891(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.21121277C>T
CLNSRC ClinVar
CLNACC RCV000119335.1,