rs9593
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs9593(A;A) |
Make rs9593(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 109557065 |
Gene | MMAB |
is a | snp |
is | mentioned by |
dbSNP | rs9593 |
dbSNP (classic) | rs9593 |
ClinGen | rs9593 |
ebi | rs9593 |
HLI | rs9593 |
Exac | rs9593 |
Gnomad | rs9593 |
Varsome | rs9593 |
LitVar | rs9593 |
Map | rs9593 |
PheGenI | rs9593 |
Biobank | rs9593 |
1000 genomes | rs9593 |
hgdp | rs9593 |
ensembl | rs9593 |
geneview | rs9593 |
scholar | rs9593 |
rs9593 | |
pharmgkb | rs9593 |
gwascentral | rs9593 |
openSNP | rs9593 |
23andMe | rs9593 |
SNPshot | rs9593 |
SNPdbe | rs9593 |
MSV3d | rs9593 |
GWAS Ctlg | rs9593 |
GMAF | 0.4862 |
Max Magnitude | 0 |
? | (A;A) (A;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs9593(A;A) rs9593(C;C) |
Alt | rs9593(A;A) rs9593(C;C) |
Reference | Rs9593(T;T) |
Significance | Non-pathogenic |
Disease | not specified Methylmalonic acidemia |
Variation | info |
Gene | MMAB |
CLNDBN | not specified Methylmalonic acidemia |
Reversed | 1 |
HGVS | NC_000012.11:g.109994870A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000082328.8, RCV000320735.1, |
[PMID 29069827] The effect of MVK-MMAB variants, their haplotypes and G×E interactions on serum lipid levels and the risk of coronary heart disease and ischemic stroke.