rs755586631
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs755586631(A;A) |
Make rs755586631(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 12893531 |
Gene | GCDH |
is a | snp |
is | mentioned by |
dbSNP | rs755586631 |
dbSNP (classic) | rs755586631 |
ClinGen | rs755586631 |
ebi | rs755586631 |
HLI | rs755586631 |
Exac | rs755586631 |
Gnomad | rs755586631 |
Varsome | rs755586631 |
LitVar | rs755586631 |
Map | rs755586631 |
PheGenI | rs755586631 |
Biobank | rs755586631 |
1000 genomes | rs755586631 |
hgdp | rs755586631 |
ensembl | rs755586631 |
geneview | rs755586631 |
scholar | rs755586631 |
rs755586631 | |
pharmgkb | rs755586631 |
gwascentral | rs755586631 |
openSNP | rs755586631 |
23andMe | rs755586631 |
SNPshot | rs755586631 |
SNPdbe | rs755586631 |
MSV3d | rs755586631 |
GWAS Ctlg | rs755586631 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755586631(A;A) |
Alt | rs755586631(A;A) |
Reference | Rs755586631(G;G) |
Significance | Probable-Pathogenic |
Disease | Glutaric aciduria |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.13004345G>A |
CLNSRC | Counsyl |
CLNACC | RCV000169460.1, |