rs878853154
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 3 | Carrier of a Glutaric aciduria type I mutation |
Make rs878853154(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 12893579 |
Gene | GCDH |
is a | snp |
is | mentioned by |
dbSNP | rs878853154 |
dbSNP (classic) | rs878853154 |
ClinGen | rs878853154 |
ebi | rs878853154 |
HLI | rs878853154 |
Exac | rs878853154 |
Gnomad | rs878853154 |
Varsome | rs878853154 |
LitVar | rs878853154 |
Map | rs878853154 |
PheGenI | rs878853154 |
Biobank | rs878853154 |
1000 genomes | rs878853154 |
hgdp | rs878853154 |
ensembl | rs878853154 |
geneview | rs878853154 |
scholar | rs878853154 |
rs878853154 | |
pharmgkb | rs878853154 |
gwascentral | rs878853154 |
openSNP | rs878853154 |
23andMe | rs878853154 |
SNPshot | rs878853154 |
SNPdbe | rs878853154 |
MSV3d | rs878853154 |
GWAS Ctlg | rs878853154 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs878853154(C;C) |
Alt | rs878853154(C;C) |
Reference | Rs878853154(A;A) |
Significance | Pathogenic |
Disease | Glutaric aciduria |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.13004393A>C |
CLNSRC | |
CLNACC | RCV000224360.1, |