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rs483352885

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs483352885(A;T)
Make rs483352885(T;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position23554809
GeneNPC1
is asnp
is mentioned by
dbSNPrs483352885
ebirs483352885
HLIrs483352885
Exacrs483352885
Varsomers483352885
Maprs483352885
PheGenIrs483352885
hapmaprs483352885
1000 genomesrs483352885
hgdprs483352885
ensemblrs483352885
gopubmedrs483352885
geneviewrs483352885
scholarrs483352885
googlers483352885
pharmgkbrs483352885
gwascentralrs483352885
openSNPrs483352885
23andMers483352885
23andMe allrs483352885
SNP Nexus

SNPshotrs483352885
SNPdbers483352885
MSV3drs483352885
GWAS Ctlgrs483352885
Max Magnitude0
ClinVar
Risk rs483352885(T;T)
Alt rs483352885(T;T)
Reference rs483352885(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.21134773T>A
CLNSRC ClinVar
CLNACC RCV000119326.1,