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rs80358263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358263(A;A)
Make rs80358263(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position74486378
GeneNPC2
is asnp
is mentioned by
dbSNPrs80358263
ebirs80358263
HLIrs80358263
Exacrs80358263
Varsomers80358263
Maprs80358263
PheGenIrs80358263
hapmaprs80358263
1000 genomesrs80358263
hgdprs80358263
ensemblrs80358263
gopubmedrs80358263
geneviewrs80358263
scholarrs80358263
googlers80358263
pharmgkbrs80358263
gwascentralrs80358263
openSNPrs80358263
23andMers80358263
23andMe allrs80358263
SNP Nexus

SNPshotrs80358263
SNPdbers80358263
MSV3drs80358263
GWAS Ctlgrs80358263
Max Magnitude0
ClinVar
Risk rs80358263(A;A)
Alt rs80358263(A;A)
Reference rs80358263(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.74953081G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020644.2,