rs121918307
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918307(C;T) |
Make rs121918307(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 102212829 |
Gene | RRM2B |
is a | snp |
is | mentioned by |
dbSNP | rs121918307 |
dbSNP (classic) | rs121918307 |
ClinGen | rs121918307 |
ebi | rs121918307 |
HLI | rs121918307 |
Exac | rs121918307 |
Gnomad | rs121918307 |
Varsome | rs121918307 |
LitVar | rs121918307 |
Map | rs121918307 |
PheGenI | rs121918307 |
Biobank | rs121918307 |
1000 genomes | rs121918307 |
hgdp | rs121918307 |
ensembl | rs121918307 |
geneview | rs121918307 |
scholar | rs121918307 |
rs121918307 | |
pharmgkb | rs121918307 |
gwascentral | rs121918307 |
openSNP | rs121918307 |
23andMe | rs121918307 |
SNPshot | rs121918307 |
SNPdbe | rs121918307 |
MSV3d | rs121918307 |
GWAS Ctlg | rs121918307 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918307(T;T) |
Alt | rs121918307(T;T) |
Reference | Rs121918307(C;C) |
Significance | Pathogenic |
Disease | Mitochondrial DNA depletion syndrome RRM2B-related mitochondrial disease |
Variation | info |
Gene | RRM2B |
CLNDBN | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy RRM2B-related mitochondrial disease |
Reversed | 1 |
HGVS | NC_000008.10:g.103225057G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005717.2, RCV000119010.2, |