Rs11694

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Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs11694(C;C)
Make rs11694(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position74484579
GeneNPC2
is asnp
is mentioned by
dbSNPrs11694
Exacrs11694
PheGenIrs11694
nextbiors11694
hapmaprs11694
1000 genomesrs11694
hgdprs11694
ensemblrs11694
gopubmedrs11694
geneviewrs11694
scholarrs11694
googlers11694
pharmgkbrs11694
gwascentralrs11694
openSNPrs11694
23andMers11694
23andMe allrs11694
SNP Nexus

SNPshotrs11694
SNPdbers11694
MSV3drs11694
Max Magnitude0
OMIM601015
DescNiemann-Pick disease , TYPE C2
Variant0006
Relatedalso
ClinVar
Risk rs11694(C;C)
Alt rs11694(C;C)
Reference rs11694(T;T)
Significance Pathogenic
Disease Niemann-Pick disease type C2
Variation info
Gene NPC2
CLNDBN Niemann-Pick disease type C2
Reversed 1
HGVS NC_000014.8:g.74951282A>G
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000009003.2,


[PMID 11567215OA-icon.png] Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

[PMID 15937921] Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.