rs202247819
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs202247819(C;C) |
Make rs202247819(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 136261979 |
Gene | PCCB |
is a | snp |
is | mentioned by |
dbSNP | rs202247819 |
dbSNP (classic) | rs202247819 |
ClinGen | rs202247819 |
ebi | rs202247819 |
HLI | rs202247819 |
Exac | rs202247819 |
Gnomad | rs202247819 |
Varsome | rs202247819 |
LitVar | rs202247819 |
Map | rs202247819 |
PheGenI | rs202247819 |
Biobank | rs202247819 |
1000 genomes | rs202247819 |
hgdp | rs202247819 |
ensembl | rs202247819 |
geneview | rs202247819 |
scholar | rs202247819 |
rs202247819 | |
pharmgkb | rs202247819 |
gwascentral | rs202247819 |
openSNP | rs202247819 |
23andMe | rs202247819 |
SNPshot | rs202247819 |
SNPdbe | rs202247819 |
MSV3d | rs202247819 |
GWAS Ctlg | rs202247819 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202247819(C;C) |
Alt | rs202247819(C;C) |
Reference | Rs202247819(G;G) |
Significance | Pathogenic |
Disease | Propionic acidemia |
Variation | info |
Gene | PCCB |
CLNDBN | Propionic acidemia |
Reversed | 0 |
HGVS | NC_000003.11:g.135980821G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000032133.1, |