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rs483352892

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483352892(C;G)
Make rs483352892(G;G)
ReferenceGRCh38 38.1/142
Chromosome18
Position23538674
GeneNPC1
is asnp
is mentioned by
dbSNPrs483352892
ebirs483352892
HLIrs483352892
Exacrs483352892
Varsomers483352892
Maprs483352892
PheGenIrs483352892
hapmaprs483352892
1000 genomesrs483352892
hgdprs483352892
ensemblrs483352892
gopubmedrs483352892
geneviewrs483352892
scholarrs483352892
googlers483352892
pharmgkbrs483352892
gwascentralrs483352892
openSNPrs483352892
23andMers483352892
23andMe allrs483352892
SNP Nexus

SNPshotrs483352892
SNPdbers483352892
MSV3drs483352892
GWAS Ctlgrs483352892
Max Magnitude0
ClinVar
Risk rs483352892(G;G)
Alt rs483352892(G;G)
Reference rs483352892(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.21118638G>C
CLNSRC ClinVar
CLNACC RCV000119337.1,