rs776082304
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs776082304(C;T) |
Make rs776082304(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 12897859 |
Gene | GCDH, SYCE2 |
is a | snp |
is | mentioned by |
dbSNP | rs776082304 |
dbSNP (classic) | rs776082304 |
ClinGen | rs776082304 |
ebi | rs776082304 |
HLI | rs776082304 |
Exac | rs776082304 |
Gnomad | rs776082304 |
Varsome | rs776082304 |
LitVar | rs776082304 |
Map | rs776082304 |
PheGenI | rs776082304 |
Biobank | rs776082304 |
1000 genomes | rs776082304 |
hgdp | rs776082304 |
ensembl | rs776082304 |
geneview | rs776082304 |
scholar | rs776082304 |
rs776082304 | |
pharmgkb | rs776082304 |
gwascentral | rs776082304 |
openSNP | rs776082304 |
23andMe | rs776082304 |
SNPshot | rs776082304 |
SNPdbe | rs776082304 |
MSV3d | rs776082304 |
GWAS Ctlg | rs776082304 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs776082304(A;A) rs776082304(T;T) |
Alt | rs776082304(A;A) rs776082304(T;T) |
Reference | Rs776082304(C;C) |
Significance | Probable-Pathogenic |
Disease | Glutaric aciduria |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.13008673C>A |
CLNSRC | Counsyl |
CLNACC | RCV000169467.1, |