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rs120074131

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074131(C;C)
Make rs120074131(C;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position23533470
GeneNPC1
is asnp
is mentioned by
dbSNPrs120074131
ebirs120074131
HLIrs120074131
Exacrs120074131
Varsomers120074131
Maprs120074131
PheGenIrs120074131
hapmaprs120074131
1000 genomesrs120074131
hgdprs120074131
ensemblrs120074131
gopubmedrs120074131
geneviewrs120074131
scholarrs120074131
googlers120074131
pharmgkbrs120074131
gwascentralrs120074131
openSNPrs120074131
23andMers120074131
23andMe allrs120074131
SNP Nexus

SNPshotrs120074131
SNPdbers120074131
MSV3drs120074131
GWAS Ctlgrs120074131
Max Magnitude0
OMIM607623
Desc
Variant0009
Relatedalso
ClinVar
Risk rs120074131(C;C)
Alt rs120074131(C;C)
Reference rs120074131(G;G)
Significance Pathogenic
Disease Niemann-pick disease
Variation info
Gene C18orf8 NPC1
CLNDBN Niemann-pick disease, type c1, juvenile form
Reversed 1
HGVS NC_000018.9:g.21113434C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003099.3,