Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358266

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358266(G;T)
Make rs80358266(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position74484426
GeneNPC2
is asnp
is mentioned by
dbSNPrs80358266
ebirs80358266
HLIrs80358266
Exacrs80358266
Varsomers80358266
Maprs80358266
PheGenIrs80358266
hapmaprs80358266
1000 genomesrs80358266
hgdprs80358266
ensemblrs80358266
gopubmedrs80358266
geneviewrs80358266
scholarrs80358266
googlers80358266
pharmgkbrs80358266
gwascentralrs80358266
openSNPrs80358266
23andMers80358266
23andMe allrs80358266
SNP Nexus

SNPshotrs80358266
SNPdbers80358266
MSV3drs80358266
GWAS Ctlgrs80358266
Max Magnitude0
OMIM601015
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80358266(A,T;A,T)
Alt rs80358266(A,T;A,T)
Reference rs80358266(G;G)
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.74951129C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009001.3,


[PMID 11567215OA-icon.png] Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.