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rs483352886

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483352886(A;A)
Make rs483352886(A;G)
ReferenceGRCh38 38.1/142
Chromosome18
Position23554758
GeneNPC1
is asnp
is mentioned by
dbSNPrs483352886
ebirs483352886
HLIrs483352886
Exacrs483352886
Varsomers483352886
Maprs483352886
PheGenIrs483352886
hapmaprs483352886
1000 genomesrs483352886
hgdprs483352886
ensemblrs483352886
gopubmedrs483352886
geneviewrs483352886
scholarrs483352886
googlers483352886
pharmgkbrs483352886
gwascentralrs483352886
openSNPrs483352886
23andMers483352886
23andMe allrs483352886
SNP Nexus

SNPshotrs483352886
SNPdbers483352886
MSV3drs483352886
GWAS Ctlgrs483352886
Max Magnitude0
ClinVar
Risk rs483352886(A;A)
Alt rs483352886(A;A)
Reference rs483352886(G;G)
Significance Other
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21134722C>T
CLNSRC ClinVar
CLNACC RCV000119327.3,