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rs120074136

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs120074136(C;C)
Make rs120074136(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position23568949
GeneNPC1
is asnp
is mentioned by
dbSNPrs120074136
ebirs120074136
HLIrs120074136
Exacrs120074136
Varsomers120074136
Maprs120074136
PheGenIrs120074136
hapmaprs120074136
1000 genomesrs120074136
hgdprs120074136
ensemblrs120074136
gopubmedrs120074136
geneviewrs120074136
scholarrs120074136
googlers120074136
pharmgkbrs120074136
gwascentralrs120074136
openSNPrs120074136
23andMers120074136
23andMe allrs120074136
SNP Nexus

SNPshotrs120074136
SNPdbers120074136
MSV3drs120074136
GWAS Ctlgrs120074136
Max Magnitude0
OMIM607623
Desc
Variant0022
Relatedalso
ClinVar
Risk rs120074136(C;C)
Alt rs120074136(C;C)
Reference rs120074136(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.21148913A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003112.3,