rs879253874
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs879253874(G;T) |
Make rs879253874(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 12 |
Position | 32731492 |
Gene | DNM1L, YARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs879253874 |
dbSNP (classic) | rs879253874 |
ClinGen | rs879253874 |
ebi | rs879253874 |
HLI | rs879253874 |
Exac | rs879253874 |
Gnomad | rs879253874 |
Varsome | rs879253874 |
LitVar | rs879253874 |
Map | rs879253874 |
PheGenI | rs879253874 |
Biobank | rs879253874 |
1000 genomes | rs879253874 |
hgdp | rs879253874 |
ensembl | rs879253874 |
geneview | rs879253874 |
scholar | rs879253874 |
rs879253874 | |
pharmgkb | rs879253874 |
gwascentral | rs879253874 |
openSNP | rs879253874 |
23andMe | rs879253874 |
SNPshot | rs879253874 |
SNPdbe | rs879253874 |
MSV3d | rs879253874 |
GWAS Ctlg | rs879253874 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253874(T;T) |
Alt | rs879253874(T;T) |
Reference | Rs879253874(G;G) |
Significance | Probable-Pathogenic |
Disease | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
Variation | info |
Gene | YARS2 DNM1L |
CLNDBN | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
Reversed | 0 |
HGVS | NC_000012.11:g.32884426G>T |
CLNSRC | |
CLNACC | RCV000237095.1, |