rs139851890
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs139851890(C;T) |
Make rs139851890(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 12893564 |
Gene | GCDH |
is a | snp |
is | mentioned by |
dbSNP | rs139851890 |
dbSNP (classic) | rs139851890 |
ClinGen | rs139851890 |
ebi | rs139851890 |
HLI | rs139851890 |
Exac | rs139851890 |
Gnomad | rs139851890 |
Varsome | rs139851890 |
LitVar | rs139851890 |
Map | rs139851890 |
PheGenI | rs139851890 |
Biobank | rs139851890 |
1000 genomes | rs139851890 |
hgdp | rs139851890 |
ensembl | rs139851890 |
geneview | rs139851890 |
scholar | rs139851890 |
rs139851890 | |
pharmgkb | rs139851890 |
gwascentral | rs139851890 |
openSNP | rs139851890 |
23andMe | rs139851890 |
SNPshot | rs139851890 |
SNPdbe | rs139851890 |
MSV3d | rs139851890 |
GWAS Ctlg | rs139851890 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139851890(T;T) |
Alt | rs139851890(T;T) |
Reference | Rs139851890(C;C) |
Significance | Pathogenic |
Disease | Glutaric aciduria not provided |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.13004378C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169288.1, RCV000254928.1, |