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rs28942104

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28942104(C;T)
Make rs28942104(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position23536811
GeneNPC1
is asnp
is mentioned by
dbSNPrs28942104
ebirs28942104
HLIrs28942104
Exacrs28942104
Varsomers28942104
Maprs28942104
PheGenIrs28942104
hapmaprs28942104
1000 genomesrs28942104
hgdprs28942104
ensemblrs28942104
gopubmedrs28942104
geneviewrs28942104
scholarrs28942104
googlers28942104
pharmgkbrs28942104
gwascentralrs28942104
openSNPrs28942104
23andMers28942104
23andMe allrs28942104
SNP Nexus

SNPshotrs28942104
SNPdbers28942104
MSV3drs28942104
GWAS Ctlgrs28942104
Max Magnitude0
OMIM607623
DescNiemann-Pick disease, TYPE C1
Variant0002
Relatedalso
Neighborrs28942107
Distance3
ClinVar
Risk rs28942104(T;T)
Alt rs28942104(T;T)
Reference rs28942104(C;C)
Significance Other
Disease Niemann-Pick disease type C1 not provided
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1 not provided
Reversed 1
HGVS NC_000018.9:g.21116775G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003092.4, RCV000176149.1,