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rs150334966

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs150334966(A;A)
Make rs150334966(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23538572
GeneNPC1
is asnp
is mentioned by
dbSNPrs150334966
dbSNP (old)rs150334966
ClinGenrs150334966
ebirs150334966
HLIrs150334966
Exacrs150334966
Gnomadrs150334966
Varsomers150334966
LitVarrs150334966
Maprs150334966
PheGenIrs150334966
Biobankrs150334966
1000 genomesrs150334966
hgdprs150334966
ensemblrs150334966
gopubmedrs150334966
geneviewrs150334966
scholarrs150334966
googlers150334966
pharmgkbrs150334966
gwascentralrs150334966
openSNPrs150334966
23andMers150334966
23andMe allrs150334966
SNPshotrs150334966
SNPdbers150334966
MSV3drs150334966
GWAS Ctlgrs150334966
Max Magnitude0
ClinVar
Risk rs150334966(A;A)
Alt rs150334966(A;A)
Reference Rs150334966(G;G)
Significance Pathogenic
Disease Niemann-Pick disease not provided
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease, type C not provided
Reversed 0
HGVS NC_000018.9:g.21118536G>A
CLNSRC
CLNACC RCV000268057.1, RCV000414264.1,