Rs104894458

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Orientationminus
is asnp
is mentioned by
dbSNPrs104894458
PheGenIrs104894458
nextbiors104894458
hapmaprs104894458
1000 genomesrs104894458
hgdprs104894458
ensemblrs104894458
gopubmedrs104894458
geneviewrs104894458
scholarrs104894458
googlers104894458
pharmgkbrs104894458
gwascentralrs104894458
openSNPrs104894458
23andMers104894458
23andMe allrs104894458
SNP Nexus

SNPshotrs104894458
SNPdbers104894458
MSV3drs104894458
GeneNPC2
Chromosome14
Orientationminus
Position74951123
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894458(C;T)
Make rs104894458(T;T)
OMIM601015
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894458(T;T)
Alt rs104894458(T;T)
Reference rs104894458(C;C)
Significance 5
Disease Niemann-Pick disease type C2
ClinVar info
Gene NPC2
CLNDBN Niemann-Pick disease type C2
Reversed 1
CLNHGVS NC_000014.8:g.74951123G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009007.1