rs111033538
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111033538(C;T) |
Make rs111033538(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 71124445 |
Gene | MCEE |
is a | snp |
is | mentioned by |
dbSNP | rs111033538 |
dbSNP (classic) | rs111033538 |
ClinGen | rs111033538 |
ebi | rs111033538 |
HLI | rs111033538 |
Exac | rs111033538 |
Gnomad | rs111033538 |
Varsome | rs111033538 |
LitVar | rs111033538 |
Map | rs111033538 |
PheGenI | rs111033538 |
Biobank | rs111033538 |
1000 genomes | rs111033538 |
hgdp | rs111033538 |
ensembl | rs111033538 |
geneview | rs111033538 |
scholar | rs111033538 |
rs111033538 | |
pharmgkb | rs111033538 |
gwascentral | rs111033538 |
openSNP | rs111033538 |
23andMe | rs111033538 |
SNPshot | rs111033538 |
SNPdbe | rs111033538 |
MSV3d | rs111033538 |
GWAS Ctlg | rs111033538 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033538(T;T) |
Alt | rs111033538(T;T) |
Reference | Rs111033538(C;C) |
Significance | Pathogenic |
Disease | Methylmalonyl-CoA epimerase deficiency |
Variation | info |
Gene | MCEE |
CLNDBN | Methylmalonyl-CoA epimerase deficiency |
Reversed | 1 |
HGVS | NC_000002.11:g.71351575G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002434.2, |