rs104886492
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs104886492(C;C) |
Make rs104886492(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 53432410 |
Gene | HSD17B10 |
is a | snp |
is | mentioned by |
dbSNP | rs104886492 |
dbSNP (classic) | rs104886492 |
ClinGen | rs104886492 |
ebi | rs104886492 |
HLI | rs104886492 |
Exac | rs104886492 |
Gnomad | rs104886492 |
Varsome | rs104886492 |
LitVar | rs104886492 |
Map | rs104886492 |
PheGenI | rs104886492 |
Biobank | rs104886492 |
1000 genomes | rs104886492 |
hgdp | rs104886492 |
ensembl | rs104886492 |
geneview | rs104886492 |
scholar | rs104886492 |
rs104886492 | |
pharmgkb | rs104886492 |
gwascentral | rs104886492 |
openSNP | rs104886492 |
23andMe | rs104886492 |
SNPshot | rs104886492 |
SNPdbe | rs104886492 |
MSV3d | rs104886492 |
GWAS Ctlg | rs104886492 |
Max Magnitude | 0 |
[PMID 22132097] 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 | Pathogenic |
Disease | not specified 2-methyl-3-hydroxybutyric aciduria |
Variation | info |
Gene | HSD17B10 |
CLNDBN | not specified 2-methyl-3-hydroxybutyric aciduria |
Reversed | 1 |
HGVS | NC_000023.10:g.53459358A>G |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000081106.4, RCV000488826.1, |