rs202247823
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs202247823(A;G) |
Make rs202247823(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 136330012 |
Gene | PCCB |
is a | snp |
is | mentioned by |
dbSNP | rs202247823 |
dbSNP (classic) | rs202247823 |
ClinGen | rs202247823 |
ebi | rs202247823 |
HLI | rs202247823 |
Exac | rs202247823 |
Gnomad | rs202247823 |
Varsome | rs202247823 |
LitVar | rs202247823 |
Map | rs202247823 |
PheGenI | rs202247823 |
Biobank | rs202247823 |
1000 genomes | rs202247823 |
hgdp | rs202247823 |
ensembl | rs202247823 |
geneview | rs202247823 |
scholar | rs202247823 |
rs202247823 | |
pharmgkb | rs202247823 |
gwascentral | rs202247823 |
openSNP | rs202247823 |
23andMe | rs202247823 |
SNPshot | rs202247823 |
SNPdbe | rs202247823 |
MSV3d | rs202247823 |
GWAS Ctlg | rs202247823 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202247823(G;G) |
Alt | rs202247823(G;G) |
Reference | Rs202247823(A;A) |
Significance | Pathogenic |
Disease | Propionic acidemia not provided |
Variation | info |
Gene | PCCB |
CLNDBN | Propionic acidemia not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.136048854A>G |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000032130.2, RCV000079090.3, |