rs149977726
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs149977726(C;C) |
Make rs149977726(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 22 |
Position | 50527265 |
Gene | SCO2, TYMP |
is a | snp |
is | mentioned by |
dbSNP | rs149977726 |
dbSNP (classic) | rs149977726 |
ClinGen | rs149977726 |
ebi | rs149977726 |
HLI | rs149977726 |
Exac | rs149977726 |
Gnomad | rs149977726 |
Varsome | rs149977726 |
LitVar | rs149977726 |
Map | rs149977726 |
PheGenI | rs149977726 |
Biobank | rs149977726 |
1000 genomes | rs149977726 |
hgdp | rs149977726 |
ensembl | rs149977726 |
geneview | rs149977726 |
scholar | rs149977726 |
rs149977726 | |
pharmgkb | rs149977726 |
gwascentral | rs149977726 |
openSNP | rs149977726 |
23andMe | rs149977726 |
SNPshot | rs149977726 |
SNPdbe | rs149977726 |
MSV3d | rs149977726 |
GWAS Ctlg | rs149977726 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149977726(C;C) |
Alt | rs149977726(C;C) |
Reference | Rs149977726(T;T) |
Significance | Pathogenic |
Disease | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
Variation | info |
Gene | TYMP SCO2 |
CLNDBN | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
Reversed | 0 |
HGVS | NC_000022.10:g.50965694T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018136.30, |