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rs80358265

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358265(-;-)
Make rs80358265(-;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position74484446
GeneNPC2
is asnp
is mentioned by
dbSNPrs80358265
ebirs80358265
HLIrs80358265
Exacrs80358265
Varsomers80358265
Maprs80358265
PheGenIrs80358265
hapmaprs80358265
1000 genomesrs80358265
hgdprs80358265
ensemblrs80358265
gopubmedrs80358265
geneviewrs80358265
scholarrs80358265
googlers80358265
pharmgkbrs80358265
gwascentralrs80358265
openSNPrs80358265
23andMers80358265
23andMe allrs80358265
SNP Nexus

SNPshotrs80358265
SNPdbers80358265
MSV3drs80358265
GWAS Ctlgrs80358265
Max Magnitude0
ClinVar
Risk rs80358265(;)
Alt rs80358265(;)
Reference rs80358265(A;A)
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.74951149delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020647.1,