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rs120074134

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs120074134(C;C)
Make rs120074134(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position23556436
GeneNPC1
is asnp
is mentioned by
dbSNPrs120074134
ebirs120074134
HLIrs120074134
Exacrs120074134
Varsomers120074134
Maprs120074134
PheGenIrs120074134
hapmaprs120074134
1000 genomesrs120074134
hgdprs120074134
ensemblrs120074134
gopubmedrs120074134
geneviewrs120074134
scholarrs120074134
googlers120074134
pharmgkbrs120074134
gwascentralrs120074134
openSNPrs120074134
23andMers120074134
23andMe allrs120074134
SNP Nexus

SNPshotrs120074134
SNPdbers120074134
MSV3drs120074134
GWAS Ctlgrs120074134
Max Magnitude0
OMIM607623
Desc
Variant0014
Relatedalso
ClinVar
Risk rs120074134(C;C)
Alt rs120074134(C;C)
Reference rs120074134(T;T)
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.21136400A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003104.3,