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rs80358267

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358267(-;-)
Make rs80358267(-;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position74493248
GeneNPC2
is asnp
is mentioned by
dbSNPrs80358267
ebirs80358267
HLIrs80358267
Exacrs80358267
Varsomers80358267
Maprs80358267
PheGenIrs80358267
hapmaprs80358267
1000 genomesrs80358267
hgdprs80358267
ensemblrs80358267
gopubmedrs80358267
geneviewrs80358267
scholarrs80358267
googlers80358267
pharmgkbrs80358267
gwascentralrs80358267
openSNPrs80358267
23andMers80358267
23andMe allrs80358267
SNP Nexus

SNPshotrs80358267
SNPdbers80358267
MSV3drs80358267
GWAS Ctlgrs80358267
Max Magnitude0
ClinVar
Risk rs80358267(;)
Alt rs80358267(;)
Reference rs80358267(G;G)
Significance Pathogenic
Disease Niemann-Pick disease type C2
Variation info
Gene ISCA2 NPC2
CLNDBN Niemann-Pick disease type C2
Reversed 1
HGVS NC_000014.8:g.74959951delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020645.1,