rs376103091
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs376103091(A;A) |
Make rs376103091(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23544677 |
Gene | EARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs376103091 |
dbSNP (classic) | rs376103091 |
ClinGen | rs376103091 |
ebi | rs376103091 |
HLI | rs376103091 |
Exac | rs376103091 |
Gnomad | rs376103091 |
Varsome | rs376103091 |
LitVar | rs376103091 |
Map | rs376103091 |
PheGenI | rs376103091 |
Biobank | rs376103091 |
1000 genomes | rs376103091 |
hgdp | rs376103091 |
ensembl | rs376103091 |
geneview | rs376103091 |
scholar | rs376103091 |
rs376103091 | |
pharmgkb | rs376103091 |
gwascentral | rs376103091 |
openSNP | rs376103091 |
23andMe | rs376103091 |
SNPshot | rs376103091 |
SNPdbe | rs376103091 |
MSV3d | rs376103091 |
GWAS Ctlg | rs376103091 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376103091(A;A) |
Alt | rs376103091(A;A) |
Reference | Rs376103091(G;G) |
Significance | Other |
Disease | Combined oxidative phosphorylation deficiency 12 not provided |
Variation | info |
Gene | EARS2 |
CLNDBN | Combined oxidative phosphorylation deficiency 12 not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.23555998G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000033009.3, RCV000255688.3, |