rs786200983
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786200983(-;T) |
Make rs786200983(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 136316964 |
Gene | PCCB |
is a | snp |
is | mentioned by |
dbSNP | rs786200983 |
dbSNP (classic) | rs786200983 |
ClinGen | rs786200983 |
ebi | rs786200983 |
HLI | rs786200983 |
Exac | rs786200983 |
Gnomad | rs786200983 |
Varsome | rs786200983 |
LitVar | rs786200983 |
Map | rs786200983 |
PheGenI | rs786200983 |
Biobank | rs786200983 |
1000 genomes | rs786200983 |
hgdp | rs786200983 |
ensembl | rs786200983 |
geneview | rs786200983 |
scholar | rs786200983 |
rs786200983 | |
pharmgkb | rs786200983 |
gwascentral | rs786200983 |
openSNP | rs786200983 |
23andMe | rs786200983 |
SNPshot | rs786200983 |
SNPdbe | rs786200983 |
MSV3d | rs786200983 |
GWAS Ctlg | rs786200983 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200983(T;T) |
Alt | rs786200983(T;T) |
Reference | Rs786200983(-;-) |
Significance | Pathogenic |
Disease | not provided Propionic acidemia |
Variation | info |
Gene | PCCB |
CLNDBN | not provided Propionic acidemia |
Reversed | 0 |
HGVS | NC_000003.11:g.136035806dupT |
CLNSRC | HGMD |
CLNACC | RCV000153647.4, RCV000173704.1, |