rs587777651
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587777651(C;C) |
Make rs587777651(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 53432347 |
Gene | HSD17B10 |
is a | snp |
is | mentioned by |
dbSNP | rs587777651 |
dbSNP (classic) | rs587777651 |
ClinGen | rs587777651 |
ebi | rs587777651 |
HLI | rs587777651 |
Exac | rs587777651 |
Gnomad | rs587777651 |
Varsome | rs587777651 |
LitVar | rs587777651 |
Map | rs587777651 |
PheGenI | rs587777651 |
Biobank | rs587777651 |
1000 genomes | rs587777651 |
hgdp | rs587777651 |
ensembl | rs587777651 |
geneview | rs587777651 |
scholar | rs587777651 |
rs587777651 | |
pharmgkb | rs587777651 |
gwascentral | rs587777651 |
openSNP | rs587777651 |
23andMe | rs587777651 |
SNPshot | rs587777651 |
SNPdbe | rs587777651 |
MSV3d | rs587777651 |
GWAS Ctlg | rs587777651 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777651(C;C) Rs587777651(T;T) |
Alt | rs587777651(C;C) Rs587777651(T;T) |
Reference | Rs587777651(A;A) |
Significance | Pathogenic |
Disease | 2-methyl-3-hydroxybutyric aciduria |
Variation | info |
Gene | HSD17B10 |
CLNDBN | 2-methyl-3-hydroxybutyric aciduria |
Reversed | 1 |
HGVS | NC_000023.10:g.53459295T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000133540.3, |