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rs80358262

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358262(C;T)
Make rs80358262(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position74486386
GeneNPC2
is asnp
is mentioned by
dbSNPrs80358262
ebirs80358262
HLIrs80358262
Exacrs80358262
Varsomers80358262
Maprs80358262
PheGenIrs80358262
hapmaprs80358262
1000 genomesrs80358262
hgdprs80358262
ensemblrs80358262
gopubmedrs80358262
geneviewrs80358262
scholarrs80358262
googlers80358262
pharmgkbrs80358262
gwascentralrs80358262
openSNPrs80358262
23andMers80358262
23andMe allrs80358262
SNP Nexus

SNPshotrs80358262
SNPdbers80358262
MSV3drs80358262
GWAS Ctlgrs80358262
Max Magnitude0
ClinVar
Risk rs80358262(T;T)
Alt rs80358262(T;T)
Reference rs80358262(C;C)
Significance Pathogenic
Disease Niemann-Pick disease type C2
Variation info
Gene NPC2
CLNDBN Niemann-Pick disease type C2
Reversed 1
HGVS NC_000014.8:g.74953089G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020643.1,