rs797044454
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797044454(C;C) |
Make rs797044454(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 50528510 |
Gene | TYMP |
is a | snp |
is | mentioned by |
dbSNP | rs797044454 |
dbSNP (classic) | rs797044454 |
ClinGen | rs797044454 |
ebi | rs797044454 |
HLI | rs797044454 |
Exac | rs797044454 |
Gnomad | rs797044454 |
Varsome | rs797044454 |
LitVar | rs797044454 |
Map | rs797044454 |
PheGenI | rs797044454 |
Biobank | rs797044454 |
1000 genomes | rs797044454 |
hgdp | rs797044454 |
ensembl | rs797044454 |
geneview | rs797044454 |
scholar | rs797044454 |
rs797044454 | |
pharmgkb | rs797044454 |
gwascentral | rs797044454 |
openSNP | rs797044454 |
23andMe | rs797044454 |
SNPshot | rs797044454 |
SNPdbe | rs797044454 |
MSV3d | rs797044454 |
GWAS Ctlg | rs797044454 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044454(A;A) rs797044454(C;C) |
Alt | rs797044454(A;A) rs797044454(C;C) |
Reference | Rs797044454(T;T) |
Significance | Pathogenic |
Disease | Mitochondrial DNA depletion syndrome 1 (MNGIE type) not provided |
Variation | info |
Gene | TYMP |
CLNDBN | Mitochondrial DNA depletion syndrome 1 (MNGIE type) not provided |
Reversed | 1 |
HGVS | NC_000022.10:g.50966939A>G; NC_000022.10:g.50966939A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018134.29, RCV000197259.2, |