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rs374526072

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374526072(C;T)
Make rs374526072(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position23535681
GeneNPC1
is asnp
is mentioned by
dbSNPrs374526072
ebirs374526072
HLIrs374526072
Exacrs374526072
Varsomers374526072
Maprs374526072
PheGenIrs374526072
hapmaprs374526072
1000 genomesrs374526072
hgdprs374526072
ensemblrs374526072
gopubmedrs374526072
geneviewrs374526072
scholarrs374526072
googlers374526072
pharmgkbrs374526072
gwascentralrs374526072
openSNPrs374526072
23andMers374526072
23andMe allrs374526072
SNP Nexus

SNPshotrs374526072
SNPdbers374526072
MSV3drs374526072
GWAS Ctlgrs374526072
Max Magnitude0
ClinVar
Risk rs374526072(T;T)
Alt rs374526072(T;T)
Reference rs374526072(C;C)
Significance Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 0
HGVS NC_000018.9:g.21115645C>T
CLNSRC
CLNACC RCV000158973.1,