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rs483352889

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483352889(C;T)
Make rs483352889(T;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position23544346
GeneNPC1
is asnp
is mentioned by
dbSNPrs483352889
ebirs483352889
HLIrs483352889
Exacrs483352889
Varsomers483352889
Maprs483352889
PheGenIrs483352889
hapmaprs483352889
1000 genomesrs483352889
hgdprs483352889
ensemblrs483352889
gopubmedrs483352889
geneviewrs483352889
scholarrs483352889
googlers483352889
pharmgkbrs483352889
gwascentralrs483352889
openSNPrs483352889
23andMers483352889
23andMe allrs483352889
SNP Nexus

SNPshotrs483352889
SNPdbers483352889
MSV3drs483352889
GWAS Ctlgrs483352889
Max Magnitude0
ClinVar
Risk rs483352889(T;T)
Alt rs483352889(T;T)
Reference rs483352889(C;C)
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.21124310G>A
CLNSRC ClinVar
CLNACC RCV000119331.1,