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rs80358258

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358258(A;A)
Make rs80358258(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position23536758
GeneNPC1
is asnp
is mentioned by
dbSNPrs80358258
ebirs80358258
HLIrs80358258
Exacrs80358258
Varsomers80358258
Maprs80358258
PheGenIrs80358258
hapmaprs80358258
1000 genomesrs80358258
hgdprs80358258
ensemblrs80358258
gopubmedrs80358258
geneviewrs80358258
scholarrs80358258
googlers80358258
pharmgkbrs80358258
gwascentralrs80358258
openSNPrs80358258
23andMers80358258
23andMe allrs80358258
SNP Nexus

SNPshotrs80358258
SNPdbers80358258
MSV3drs80358258
GWAS Ctlgrs80358258
Max Magnitude0
ClinVar
Risk rs80358258(A;A)
Alt rs80358258(A;A)
Reference rs80358258(G;G)
Significance Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21116722C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020231.2,


[PMID 11333381OA-icon.png] Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.