rs773785934
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs773785934(C;T) |
Make rs773785934(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 22 |
Position | 50525919 |
Gene | SCO2, TYMP |
is a | snp |
is | mentioned by |
dbSNP | rs773785934 |
dbSNP (classic) | rs773785934 |
ClinGen | rs773785934 |
ebi | rs773785934 |
HLI | rs773785934 |
Exac | rs773785934 |
Gnomad | rs773785934 |
Varsome | rs773785934 |
LitVar | rs773785934 |
Map | rs773785934 |
PheGenI | rs773785934 |
Biobank | rs773785934 |
1000 genomes | rs773785934 |
hgdp | rs773785934 |
ensembl | rs773785934 |
geneview | rs773785934 |
scholar | rs773785934 |
rs773785934 | |
pharmgkb | rs773785934 |
gwascentral | rs773785934 |
openSNP | rs773785934 |
23andMe | rs773785934 |
SNPshot | rs773785934 |
SNPdbe | rs773785934 |
MSV3d | rs773785934 |
GWAS Ctlg | rs773785934 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773785934(A;A) rs773785934(T;T) |
Alt | rs773785934(A;A) rs773785934(T;T) |
Reference | Rs773785934(C;C) |
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.50964348C>T |
CLNSRC | |
CLNACC | RCV000208666.1, |