Rs104886492

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Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886492(C;C)
Make rs104886492(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53432410
GeneHSD17B10
is asnp
is mentioned by
dbSNPrs104886492
Exacrs104886492
PheGenIrs104886492
nextbiors104886492
hapmaprs104886492
1000 genomesrs104886492
hgdprs104886492
ensemblrs104886492
gopubmedrs104886492
geneviewrs104886492
scholarrs104886492
googlers104886492
pharmgkbrs104886492
gwascentralrs104886492
openSNPrs104886492
23andMers104886492
23andMe allrs104886492
SNP Nexus

SNPshotrs104886492
SNPdbers104886492
MSV3drs104886492
Max Magnitude0

[PMID 22132097OA-icon.png] A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability

ClinVar
Risk rs104886492(C;C)
Alt rs104886492(C;C)
Reference rs104886492(T;T)
Significance Untested
Disease not provided
Variation info
Gene HSD17B10
CLNDBN not provided
Reversed 1
HGVS NC_000023.10:g.53459358A>G
CLNSRC Emory University
CLNACC RCV000081106.1,