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rs120074130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074130(A;A)
Make rs120074130(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position23539941
GeneNPC1
is asnp
is mentioned by
dbSNPrs120074130
ebirs120074130
HLIrs120074130
Exacrs120074130
Varsomers120074130
Maprs120074130
PheGenIrs120074130
hapmaprs120074130
1000 genomesrs120074130
hgdprs120074130
ensemblrs120074130
gopubmedrs120074130
geneviewrs120074130
scholarrs120074130
googlers120074130
pharmgkbrs120074130
gwascentralrs120074130
openSNPrs120074130
23andMers120074130
23andMe allrs120074130
SNP Nexus

SNPshotrs120074130
SNPdbers120074130
MSV3drs120074130
GWAS Ctlgrs120074130
Max Magnitude0
OMIM607623
Desc
Variant0006
Relatedalso
ClinVar
Risk rs120074130(A;A)
Alt rs120074130(A;A)
Reference rs120074130(G;G)
Significance Pathogenic
Disease Niemann-pick disease
Variation info
Gene NPC1
CLNDBN Niemann-pick disease, type c1, adult form
Reversed 1
HGVS NC_000018.9:g.21119905C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003096.2,