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rs483352888

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs483352888(C;C)
Make rs483352888(C;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position23544420
GeneNPC1
is asnp
is mentioned by
dbSNPrs483352888
ebirs483352888
HLIrs483352888
Exacrs483352888
Varsomers483352888
Maprs483352888
PheGenIrs483352888
hapmaprs483352888
1000 genomesrs483352888
hgdprs483352888
ensemblrs483352888
gopubmedrs483352888
geneviewrs483352888
scholarrs483352888
googlers483352888
pharmgkbrs483352888
gwascentralrs483352888
openSNPrs483352888
23andMers483352888
23andMe allrs483352888
SNP Nexus

SNPshotrs483352888
SNPdbers483352888
MSV3drs483352888
GWAS Ctlgrs483352888
Max Magnitude0
ClinVar
Risk rs483352888(C;C)
Alt rs483352888(C;C)
Reference rs483352888(T;T)
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.21124384A>G
CLNSRC ClinVar
CLNACC RCV000119330.1,