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rs483352887

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs483352887(A;G)
Make rs483352887(G;G)
ReferenceGRCh38 38.1/142
Chromosome18
Position23545075
GeneNPC1
is asnp
is mentioned by
dbSNPrs483352887
ebirs483352887
HLIrs483352887
Exacrs483352887
Varsomers483352887
Maprs483352887
PheGenIrs483352887
hapmaprs483352887
1000 genomesrs483352887
hgdprs483352887
ensemblrs483352887
gopubmedrs483352887
geneviewrs483352887
scholarrs483352887
googlers483352887
pharmgkbrs483352887
gwascentralrs483352887
openSNPrs483352887
23andMers483352887
23andMe allrs483352887
SNP Nexus

SNPshotrs483352887
SNPdbers483352887
MSV3drs483352887
GWAS Ctlgrs483352887
Max Magnitude0
ClinVar
Risk rs483352887(G;G)
Alt rs483352887(G;G)
Reference rs483352887(A;A)
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.21125039T>C
CLNSRC ClinVar
CLNACC RCV000119329.1,