rs137852865
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs137852865(A;G) |
Make rs137852865(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 121849726 |
Gene | HPD |
is a | snp |
is | mentioned by |
dbSNP | rs137852865 |
dbSNP (classic) | rs137852865 |
ClinGen | rs137852865 |
ebi | rs137852865 |
HLI | rs137852865 |
Exac | rs137852865 |
Gnomad | rs137852865 |
Varsome | rs137852865 |
LitVar | rs137852865 |
Map | rs137852865 |
PheGenI | rs137852865 |
Biobank | rs137852865 |
1000 genomes | rs137852865 |
hgdp | rs137852865 |
ensembl | rs137852865 |
geneview | rs137852865 |
scholar | rs137852865 |
rs137852865 | |
pharmgkb | rs137852865 |
gwascentral | rs137852865 |
openSNP | rs137852865 |
23andMe | rs137852865 |
SNPshot | rs137852865 |
SNPdbe | rs137852865 |
MSV3d | rs137852865 |
GWAS Ctlg | rs137852865 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852865(G;G) |
Alt | rs137852865(G;G) |
Reference | Rs137852865(A;A) |
Significance | Pathogenic |
Disease | 4-Hydroxyphenylpyruvate dioxygenase deficiency |
Variation | info |
Gene | HPD |
CLNDBN | 4-Hydroxyphenylpyruvate dioxygenase deficiency |
Reversed | 1 |
HGVS | NC_000012.11:g.122287632T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001639.3, |