rs863224914
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs863224914(-;AAG) |
Make rs863224914(AAG;AAG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 102218862 |
Gene | RRM2B |
is a | snp |
is | mentioned by |
dbSNP | rs863224914 |
dbSNP (classic) | rs863224914 |
ClinGen | rs863224914 |
ebi | rs863224914 |
HLI | rs863224914 |
Exac | rs863224914 |
Gnomad | rs863224914 |
Varsome | rs863224914 |
LitVar | rs863224914 |
Map | rs863224914 |
PheGenI | rs863224914 |
Biobank | rs863224914 |
1000 genomes | rs863224914 |
hgdp | rs863224914 |
ensembl | rs863224914 |
geneview | rs863224914 |
scholar | rs863224914 |
rs863224914 | |
pharmgkb | rs863224914 |
gwascentral | rs863224914 |
openSNP | rs863224914 |
23andMe | rs863224914 |
SNPshot | rs863224914 |
SNPdbe | rs863224914 |
MSV3d | rs863224914 |
GWAS Ctlg | rs863224914 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224914(AAG;AAG) |
Alt | rs863224914(AAG;AAG) |
Reference | Rs863224914(-;-) |
Significance | Probable-Pathogenic |
Disease | Mitochondrial DNA depletion syndrome |
Variation | info |
Gene | RRM2B |
CLNDBN | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy |
Reversed | 1 |
HGVS | NC_000008.10:g.103231090_103231091insCTT |
CLNSRC | |
CLNACC | RCV000198969.1, |