rs770277446
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs770277446(A;T) |
Make rs770277446(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 22 |
Position | 50526244 |
Gene | SCO2, TYMP |
is a | snp |
is | mentioned by |
dbSNP | rs770277446 |
dbSNP (classic) | rs770277446 |
ClinGen | rs770277446 |
ebi | rs770277446 |
HLI | rs770277446 |
Exac | rs770277446 |
Gnomad | rs770277446 |
Varsome | rs770277446 |
LitVar | rs770277446 |
Map | rs770277446 |
PheGenI | rs770277446 |
Biobank | rs770277446 |
1000 genomes | rs770277446 |
hgdp | rs770277446 |
ensembl | rs770277446 |
geneview | rs770277446 |
scholar | rs770277446 |
rs770277446 | |
pharmgkb | rs770277446 |
gwascentral | rs770277446 |
openSNP | rs770277446 |
23andMe | rs770277446 |
SNPshot | rs770277446 |
SNPdbe | rs770277446 |
MSV3d | rs770277446 |
GWAS Ctlg | rs770277446 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770277446(G;G) rs770277446(T;T) |
Alt | rs770277446(G;G) rs770277446(T;T) |
Reference | Rs770277446(A;A) |
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.50964673A>T |
CLNSRC | |
CLNACC | RCV000208672.1, |