rs886037861
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs886037861(A;A) |
Make rs886037861(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 12 |
Position | 32731018 |
Gene | DNM1L, YARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs886037861 |
dbSNP (classic) | rs886037861 |
ClinGen | rs886037861 |
ebi | rs886037861 |
HLI | rs886037861 |
Exac | rs886037861 |
Gnomad | rs886037861 |
Varsome | rs886037861 |
LitVar | rs886037861 |
Map | rs886037861 |
PheGenI | rs886037861 |
Biobank | rs886037861 |
1000 genomes | rs886037861 |
hgdp | rs886037861 |
ensembl | rs886037861 |
geneview | rs886037861 |
scholar | rs886037861 |
rs886037861 | |
pharmgkb | rs886037861 |
gwascentral | rs886037861 |
openSNP | rs886037861 |
23andMe | rs886037861 |
SNPshot | rs886037861 |
SNPdbe | rs886037861 |
MSV3d | rs886037861 |
GWAS Ctlg | rs886037861 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037861(A;A) |
Alt | rs886037861(A;A) |
Reference | Rs886037861(G;G) |
Significance | 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.32883952G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239681.1, |