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rs28942108

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28942108(C;T)
Make rs28942108(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position23538651
GeneNPC1
is asnp
is mentioned by
dbSNPrs28942108
ebirs28942108
HLIrs28942108
Exacrs28942108
Varsomers28942108
Maprs28942108
PheGenIrs28942108
hapmaprs28942108
1000 genomesrs28942108
hgdprs28942108
ensemblrs28942108
gopubmedrs28942108
geneviewrs28942108
scholarrs28942108
googlers28942108
pharmgkbrs28942108
gwascentralrs28942108
openSNPrs28942108
23andMers28942108
23andMe allrs28942108
SNP Nexus

SNPshotrs28942108
SNPdbers28942108
MSV3drs28942108
GWAS Ctlgrs28942108
Max Magnitude0
OMIM607623
DescNiemann-Pick disease, TYPE C1
Variant0020
Relatedalso


ClinVar
Risk rs28942108(T;T)
Alt rs28942108(T;T)
Reference rs28942108(C;C)
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.21118615G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003110.2,