rs886041974
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Chromosome | X |
Position | 53431556 |
Gene | HSD17B10, RIBC1 |
is a | snp |
is | mentioned by |
dbSNP | rs886041974 |
dbSNP (classic) | rs886041974 |
ClinGen | rs886041974 |
ebi | rs886041974 |
HLI | rs886041974 |
Exac | rs886041974 |
Gnomad | rs886041974 |
Varsome | rs886041974 |
LitVar | rs886041974 |
Map | rs886041974 |
PheGenI | rs886041974 |
Biobank | rs886041974 |
1000 genomes | rs886041974 |
hgdp | rs886041974 |
ensembl | rs886041974 |
geneview | rs886041974 |
scholar | rs886041974 |
rs886041974 | |
pharmgkb | rs886041974 |
gwascentral | rs886041974 |
openSNP | rs886041974 |
23andMe | rs886041974 |
SNPshot | rs886041974 |
SNPdbe | rs886041974 |
MSV3d | rs886041974 |
GWAS Ctlg | rs886041974 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886041974(G;G) |
Alt | rs886041974(G;G) |
Reference | Rs886041974(A;A) |
Significance | Pathogenic |
Disease | not provided 2-methyl-3-hydroxybutyric aciduria |
Variation | info |
Gene | HSD17B10 RIBC1 |
CLNDBN | not provided 2-methyl-3-hydroxybutyric aciduria |
Reversed | 1 |
HGVS | NC_000023.10:g.53458504T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000365072.1, RCV000488602.1, |