rs140986055
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs140986055(C;T) |
Make rs140986055(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 89102665 |
Gene | ACSF3 |
is a | snp |
is | mentioned by |
dbSNP | rs140986055 |
dbSNP (classic) | rs140986055 |
ClinGen | rs140986055 |
ebi | rs140986055 |
HLI | rs140986055 |
Exac | rs140986055 |
Gnomad | rs140986055 |
Varsome | rs140986055 |
LitVar | rs140986055 |
Map | rs140986055 |
PheGenI | rs140986055 |
Biobank | rs140986055 |
1000 genomes | rs140986055 |
hgdp | rs140986055 |
ensembl | rs140986055 |
geneview | rs140986055 |
scholar | rs140986055 |
rs140986055 | |
pharmgkb | rs140986055 |
gwascentral | rs140986055 |
openSNP | rs140986055 |
23andMe | rs140986055 |
SNPshot | rs140986055 |
SNPdbe | rs140986055 |
MSV3d | rs140986055 |
GWAS Ctlg | rs140986055 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140986055(T;T) |
Alt | rs140986055(T;T) |
Reference | Rs140986055(C;C) |
Significance | Pathogenic |
Disease | Combined malonic and methylmalonic aciduria |
Variation | info |
Gene | ACSF3 |
CLNDBN | Combined malonic and methylmalonic aciduria |
Reversed | 0 |
HGVS | NC_000016.9:g.89169073C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024136.3, |