rs372098364
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs372098364(C;C) |
Make rs372098364(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 32755124 |
Gene | YARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs372098364 |
dbSNP (classic) | rs372098364 |
ClinGen | rs372098364 |
ebi | rs372098364 |
HLI | rs372098364 |
Exac | rs372098364 |
Gnomad | rs372098364 |
Varsome | rs372098364 |
LitVar | rs372098364 |
Map | rs372098364 |
PheGenI | rs372098364 |
Biobank | rs372098364 |
1000 genomes | rs372098364 |
hgdp | rs372098364 |
ensembl | rs372098364 |
geneview | rs372098364 |
scholar | rs372098364 |
rs372098364 | |
pharmgkb | rs372098364 |
gwascentral | rs372098364 |
openSNP | rs372098364 |
23andMe | rs372098364 |
SNPshot | rs372098364 |
SNPdbe | rs372098364 |
MSV3d | rs372098364 |
GWAS Ctlg | rs372098364 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372098364(C;C) |
Alt | rs372098364(C;C) |
Reference | Rs372098364(T;T) |
Significance | Probable-Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | YARS2 |
CLNDBN | Myopathy, lactic acidosis, and sideroblastic anemia 2 |
Reversed | 0 |
HGVS | NC_000012.11:g.32908058T>C |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191148.1, |