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rs80358268

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358268(A;A)
Make rs80358268(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position74486324
GeneNPC2
is asnp
is mentioned by
dbSNPrs80358268
ebirs80358268
HLIrs80358268
Exacrs80358268
Varsomers80358268
Maprs80358268
PheGenIrs80358268
hapmaprs80358268
1000 genomesrs80358268
hgdprs80358268
ensemblrs80358268
gopubmedrs80358268
geneviewrs80358268
scholarrs80358268
googlers80358268
pharmgkbrs80358268
gwascentralrs80358268
openSNPrs80358268
23andMers80358268
23andMe allrs80358268
SNP Nexus

SNPshotrs80358268
SNPdbers80358268
MSV3drs80358268
GWAS Ctlgrs80358268
Max Magnitude0
OMIM601015
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80358268(A;A)
Alt rs80358268(A;A)
Reference rs80358268(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.74953027C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009000.2,


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