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rs483352882

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs483352882(-;-)
Make rs483352882(-;GT)
ReferenceGRCh38 38.1/142
Chromosome18
Position23543469
GeneNPC1
is asnp
is mentioned by
dbSNPrs483352882
ebirs483352882
HLIrs483352882
Exacrs483352882
Varsomers483352882
Maprs483352882
PheGenIrs483352882
hapmaprs483352882
1000 genomesrs483352882
hgdprs483352882
ensemblrs483352882
gopubmedrs483352882
geneviewrs483352882
scholarrs483352882
googlers483352882
pharmgkbrs483352882
gwascentralrs483352882
openSNPrs483352882
23andMers483352882
23andMe allrs483352882
SNP Nexus

SNPshotrs483352882
SNPdbers483352882
MSV3drs483352882
GWAS Ctlgrs483352882
Max Magnitude0
ClinVar
Risk rs483352882(;)
Alt rs483352882(;)
Reference rs483352882(GT;GT)
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.21123433_21123434delAC
CLNSRC ClinVar
CLNACC RCV000119333.1,