Rs104894457

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894457(C;T)
Make rs104894457(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position74480707
GeneMIR4709, NPC2
is asnp
is mentioned by
dbSNPrs104894457
Exacrs104894457
PheGenIrs104894457
nextbiors104894457
hapmaprs104894457
1000 genomesrs104894457
hgdprs104894457
ensemblrs104894457
gopubmedrs104894457
geneviewrs104894457
scholarrs104894457
googlers104894457
pharmgkbrs104894457
gwascentralrs104894457
openSNPrs104894457
23andMers104894457
23andMe allrs104894457
SNP Nexus

SNPshotrs104894457
SNPdbers104894457
MSV3drs104894457
OMIM601015
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894457(T;T)
Alt rs104894457(T;T)
Reference rs104894457(C;C)
Significance Pathogenic
Disease Niemann-Pick disease type C2
Variation info
Gene NPC2 MIR4709
CLNDBN Niemann-Pick disease type C2
Reversed 1
HGVS NC_000014.8:g.74947410G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009006.1,