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rs120074132

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074132(A;A)
Make rs120074132(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position23539393
GeneNPC1
is asnp
is mentioned by
dbSNPrs120074132
ebirs120074132
HLIrs120074132
Exacrs120074132
Varsomers120074132
Maprs120074132
PheGenIrs120074132
hapmaprs120074132
1000 genomesrs120074132
hgdprs120074132
ensemblrs120074132
gopubmedrs120074132
geneviewrs120074132
scholarrs120074132
googlers120074132
pharmgkbrs120074132
gwascentralrs120074132
openSNPrs120074132
23andMers120074132
23andMe allrs120074132
SNP Nexus

SNPshotrs120074132
SNPdbers120074132
MSV3drs120074132
GWAS Ctlgrs120074132
Max Magnitude0
OMIM607623
Desc
Variant0011
Relatedalso
ClinVar
Risk rs120074132(A;A)
Alt rs120074132(A;A)
Reference rs120074132(G;G)
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.21119357C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003102.2,