rs141090143
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs141090143(C;T) |
Make rs141090143(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 89154148 |
Gene | ACSF3 |
is a | snp |
is | mentioned by |
dbSNP | rs141090143 |
dbSNP (classic) | rs141090143 |
ClinGen | rs141090143 |
ebi | rs141090143 |
HLI | rs141090143 |
Exac | rs141090143 |
Gnomad | rs141090143 |
Varsome | rs141090143 |
LitVar | rs141090143 |
Map | rs141090143 |
PheGenI | rs141090143 |
Biobank | rs141090143 |
1000 genomes | rs141090143 |
hgdp | rs141090143 |
ensembl | rs141090143 |
geneview | rs141090143 |
scholar | rs141090143 |
rs141090143 | |
pharmgkb | rs141090143 |
gwascentral | rs141090143 |
openSNP | rs141090143 |
23andMe | rs141090143 |
SNPshot | rs141090143 |
SNPdbe | rs141090143 |
MSV3d | rs141090143 |
GWAS Ctlg | rs141090143 |
GMAF | 0.001837 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141090143(T;T) |
Alt | rs141090143(T;T) |
Reference | Rs141090143(C;C) |
Significance | Pathogenic |
Disease | Combined malonic and methylmalonic aciduria not provided |
Variation | info |
Gene | ACSF3 |
CLNDBN | Combined malonic and methylmalonic aciduria not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.89220556C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024130.3, RCV000185751.3, |