rs28940590
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28940590(G;T) |
Make rs28940590(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 66850918 |
Gene | PC |
is a | snp |
is | mentioned by |
dbSNP | rs28940590 |
dbSNP (classic) | rs28940590 |
ClinGen | rs28940590 |
ebi | rs28940590 |
HLI | rs28940590 |
Exac | rs28940590 |
Gnomad | rs28940590 |
Varsome | rs28940590 |
LitVar | rs28940590 |
Map | rs28940590 |
PheGenI | rs28940590 |
Biobank | rs28940590 |
1000 genomes | rs28940590 |
hgdp | rs28940590 |
ensembl | rs28940590 |
geneview | rs28940590 |
scholar | rs28940590 |
rs28940590 | |
pharmgkb | rs28940590 |
gwascentral | rs28940590 |
openSNP | rs28940590 |
23andMe | rs28940590 |
SNPshot | rs28940590 |
SNPdbe | rs28940590 |
MSV3d | rs28940590 |
GWAS Ctlg | rs28940590 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28940590(T;T) |
Alt | rs28940590(T;T) |
Reference | Rs28940590(G;G) |
Significance | Pathogenic |
Disease | Pyruvate carboxylase deficiency |
Variation | info |
Gene | PC |
CLNDBN | Pyruvate carboxylase deficiency |
Reversed | 1 |
HGVS | NC_000011.9:g.66618389C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002176.3, |