rs111033542
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111033542(C;T) |
Make rs111033542(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 136327239 |
Gene | PCCB |
is a | snp |
is | mentioned by |
dbSNP | rs111033542 |
dbSNP (classic) | rs111033542 |
ClinGen | rs111033542 |
ebi | rs111033542 |
HLI | rs111033542 |
Exac | rs111033542 |
Gnomad | rs111033542 |
Varsome | rs111033542 |
LitVar | rs111033542 |
Map | rs111033542 |
PheGenI | rs111033542 |
Biobank | rs111033542 |
1000 genomes | rs111033542 |
hgdp | rs111033542 |
ensembl | rs111033542 |
geneview | rs111033542 |
scholar | rs111033542 |
rs111033542 | |
pharmgkb | rs111033542 |
gwascentral | rs111033542 |
openSNP | rs111033542 |
23andMe | rs111033542 |
SNPshot | rs111033542 |
SNPdbe | rs111033542 |
MSV3d | rs111033542 |
GWAS Ctlg | rs111033542 |
Merged from | Rs28934887 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033542(T;T) |
Alt | rs111033542(T;T) |
Reference | Rs111033542(C;C) |
Significance | Pathogenic |
Disease | Propionic acidemia |
Variation | info |
Gene | PCCB |
CLNDBN | Propionic acidemia |
Reversed | 0 |
HGVS | NC_000003.11:g.136046081C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012796.16, |