rs9384
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs9384(G;T) |
Make rs9384(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 12899829 |
Gene | GCDH, SYCE2 |
is a | snp |
is | mentioned by |
dbSNP | rs9384 |
dbSNP (classic) | rs9384 |
ClinGen | rs9384 |
ebi | rs9384 |
HLI | rs9384 |
Exac | rs9384 |
Gnomad | rs9384 |
Varsome | rs9384 |
LitVar | rs9384 |
Map | rs9384 |
PheGenI | rs9384 |
Biobank | rs9384 |
1000 genomes | rs9384 |
hgdp | rs9384 |
ensembl | rs9384 |
geneview | rs9384 |
scholar | rs9384 |
rs9384 | |
pharmgkb | rs9384 |
gwascentral | rs9384 |
openSNP | rs9384 |
23andMe | rs9384 |
SNPshot | rs9384 |
SNPdbe | rs9384 |
MSV3d | rs9384 |
GWAS Ctlg | rs9384 |
Max Magnitude | 0 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs9384(T;T) |
Alt | rs9384(T;T) |
Reference | Rs9384(G;G) |
Significance | Probable-Pathogenic |
Disease | Glutaric aciduria Glutaric acidemia |
Variation | info |
Gene | SYCE2 GCDH |
CLNDBN | Glutaric aciduria, type 1 Glutaric acidemia |
Reversed | 0 |
HGVS | NC_000019.9:g.13010643G>T |
CLNSRC | |
CLNACC | RCV000190519.1, RCV000336585.1, |