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rs120074135

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074135(A;A)
Make rs120074135(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position23539418
GeneNPC1
is asnp
is mentioned by
dbSNPrs120074135
ebirs120074135
HLIrs120074135
Exacrs120074135
Varsomers120074135
Maprs120074135
PheGenIrs120074135
hapmaprs120074135
1000 genomesrs120074135
hgdprs120074135
ensemblrs120074135
gopubmedrs120074135
geneviewrs120074135
scholarrs120074135
googlers120074135
pharmgkbrs120074135
gwascentralrs120074135
openSNPrs120074135
23andMers120074135
23andMe allrs120074135
SNP Nexus

SNPshotrs120074135
SNPdbers120074135
MSV3drs120074135
GWAS Ctlgrs120074135
Max Magnitude0
OMIM607623
Desc
Variant0015
Relatedalso
ClinVar
Risk rs120074135(A;A)
Alt rs120074135(A;A)
Reference rs120074135(G;G)
Significance Other
Disease Niemann-Pick disease type C1 not provided
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1 not provided
Reversed 1
HGVS NC_000018.9:g.21119382C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003105.6, RCV000212760.1,