rs797045077
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045077(-;G) |
Make rs797045077(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 32755515 |
Gene | YARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs797045077 |
dbSNP (classic) | rs797045077 |
ClinGen | rs797045077 |
ebi | rs797045077 |
HLI | rs797045077 |
Exac | rs797045077 |
Gnomad | rs797045077 |
Varsome | rs797045077 |
LitVar | rs797045077 |
Map | rs797045077 |
PheGenI | rs797045077 |
Biobank | rs797045077 |
1000 genomes | rs797045077 |
hgdp | rs797045077 |
ensembl | rs797045077 |
geneview | rs797045077 |
scholar | rs797045077 |
rs797045077 | |
pharmgkb | rs797045077 |
gwascentral | rs797045077 |
openSNP | rs797045077 |
23andMe | rs797045077 |
SNPshot | rs797045077 |
SNPdbe | rs797045077 |
MSV3d | rs797045077 |
GWAS Ctlg | rs797045077 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045077(G;G) |
Alt | rs797045077(G;G) |
Reference | Rs797045077(-;-) |
Significance | Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | YARS2 |
CLNDBN | Myopathy, lactic acidosis, and sideroblastic anemia 2 |
Reversed | 1 |
HGVS | NC_000012.11:g.32908450dupC |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191147.1, |