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rs28942105

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28942105(A;G)
Make rs28942105(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position23535479
GeneNPC1
is asnp
is mentioned by
dbSNPrs28942105
ebirs28942105
HLIrs28942105
Exacrs28942105
Varsomers28942105
Maprs28942105
PheGenIrs28942105
hapmaprs28942105
1000 genomesrs28942105
hgdprs28942105
ensemblrs28942105
gopubmedrs28942105
geneviewrs28942105
scholarrs28942105
googlers28942105
pharmgkbrs28942105
gwascentralrs28942105
openSNPrs28942105
23andMers28942105
23andMe allrs28942105
SNP Nexus

SNPshotrs28942105
SNPdbers28942105
MSV3drs28942105
GWAS Ctlgrs28942105
Max Magnitude0
OMIM607623
DescNiemann-Pick disease, TYPE C1
Variant0003
Relatedalso
Neighborrs28942106
Distance204


ClinVar
Risk rs28942105(G;G)
Alt rs28942105(G;G)
Reference rs28942105(A;A)
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.21115443T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003093.2,