rs572246667
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 136301087 |
Gene | PCCB |
is a | snp |
is | mentioned by |
dbSNP | rs572246667 |
dbSNP (classic) | rs572246667 |
ClinGen | rs572246667 |
ebi | rs572246667 |
HLI | rs572246667 |
Exac | rs572246667 |
Gnomad | rs572246667 |
Varsome | rs572246667 |
LitVar | rs572246667 |
Map | rs572246667 |
PheGenI | rs572246667 |
Biobank | rs572246667 |
1000 genomes | rs572246667 |
hgdp | rs572246667 |
ensembl | rs572246667 |
geneview | rs572246667 |
scholar | rs572246667 |
rs572246667 | |
pharmgkb | rs572246667 |
gwascentral | rs572246667 |
openSNP | rs572246667 |
23andMe | rs572246667 |
SNPshot | rs572246667 |
SNPdbe | rs572246667 |
MSV3d | rs572246667 |
GWAS Ctlg | rs572246667 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs572246667(A;A) rs572246667(T;T) |
Alt | rs572246667(A;A) rs572246667(T;T) |
Reference | Rs572246667(C;C) |
Significance | Pathogenic |
Disease | not provided Propionic acidemia |
Variation | info |
Gene | PCCB |
CLNDBN | not provided Propionic acidemia |
Reversed | 0 |
HGVS | NC_000003.11:g.136019929C>A |
CLNSRC | |
CLNACC | RCV000186088.2, RCV000341685.1, |