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rs28940897

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28940897(A;C)
Make rs28940897(C;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position23539823
GeneNPC1
is asnp
is mentioned by
dbSNPrs28940897
ebirs28940897
HLIrs28940897
Exacrs28940897
Varsomers28940897
Maprs28940897
PheGenIrs28940897
hapmaprs28940897
1000 genomesrs28940897
hgdprs28940897
ensemblrs28940897
gopubmedrs28940897
geneviewrs28940897
scholarrs28940897
googlers28940897
pharmgkbrs28940897
gwascentralrs28940897
openSNPrs28940897
23andMers28940897
23andMe allrs28940897
SNP Nexus

SNPshotrs28940897
SNPdbers28940897
MSV3drs28940897
GWAS Ctlgrs28940897
Max Magnitude0
OMIM607623
DescNiemann-Pick disease, TYPE C1
Variant0001
Relatedalso


ClinVar
Risk rs28940897(C;C)
Alt rs28940897(C;C)
Reference rs28940897(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.21119787T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003091.2,