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rs398123284

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123284(-;-)
Make rs398123284(-;T)
Make rs398123284(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position23543503
GeneNPC1
is asnp
is mentioned by
dbSNPrs398123284
ebirs398123284
HLIrs398123284
Exacrs398123284
Varsomers398123284
Maprs398123284
PheGenIrs398123284
hapmaprs398123284
1000 genomesrs398123284
hgdprs398123284
ensemblrs398123284
gopubmedrs398123284
geneviewrs398123284
scholarrs398123284
googlers398123284
pharmgkbrs398123284
gwascentralrs398123284
openSNPrs398123284
23andMers398123284
23andMe allrs398123284
SNP Nexus

SNPshotrs398123284
SNPdbers398123284
MSV3drs398123284
GWAS Ctlgrs398123284
Max Magnitude0
ClinVar
Risk rs398123284(T;T)
Alt rs398123284(T;T)
Reference rs398123284(;)
Significance Pathogenic
Disease not provided Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN not provided Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21123468dupA
CLNSRC ClinVar
CLNACC RCV000078472.3, RCV000174669.1,