rs767245071
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs767245071(C;G) |
Make rs767245071(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 50529339 |
Gene | TYMP |
is a | snp |
is | mentioned by |
dbSNP | rs767245071 |
dbSNP (classic) | rs767245071 |
ClinGen | rs767245071 |
ebi | rs767245071 |
HLI | rs767245071 |
Exac | rs767245071 |
Gnomad | rs767245071 |
Varsome | rs767245071 |
LitVar | rs767245071 |
Map | rs767245071 |
PheGenI | rs767245071 |
Biobank | rs767245071 |
1000 genomes | rs767245071 |
hgdp | rs767245071 |
ensembl | rs767245071 |
geneview | rs767245071 |
scholar | rs767245071 |
rs767245071 | |
pharmgkb | rs767245071 |
gwascentral | rs767245071 |
openSNP | rs767245071 |
23andMe | rs767245071 |
SNPshot | rs767245071 |
SNPdbe | rs767245071 |
MSV3d | rs767245071 |
GWAS Ctlg | rs767245071 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs767245071(G;G) |
Alt | rs767245071(G;G) |
Reference | Rs767245071(C;C) |
Significance | Pathogenic |
Disease | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
Variation | info |
Gene | TYMP |
CLNDBN | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
Reversed | 0 |
HGVS | NC_000022.10:g.50967768C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018142.29, |