rs182614164
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs182614164(C;G) |
Make rs182614164(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 102212833 |
Gene | RRM2B |
is a | snp |
is | mentioned by |
dbSNP | rs182614164 |
dbSNP (classic) | rs182614164 |
ClinGen | rs182614164 |
ebi | rs182614164 |
HLI | rs182614164 |
Exac | rs182614164 |
Gnomad | rs182614164 |
Varsome | rs182614164 |
LitVar | rs182614164 |
Map | rs182614164 |
PheGenI | rs182614164 |
Biobank | rs182614164 |
1000 genomes | rs182614164 |
hgdp | rs182614164 |
ensembl | rs182614164 |
geneview | rs182614164 |
scholar | rs182614164 |
rs182614164 | |
pharmgkb | rs182614164 |
gwascentral | rs182614164 |
openSNP | rs182614164 |
23andMe | rs182614164 |
SNPshot | rs182614164 |
SNPdbe | rs182614164 |
MSV3d | rs182614164 |
GWAS Ctlg | rs182614164 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs182614164(G;G) |
Alt | rs182614164(G;G) |
Reference | Rs182614164(C;C) |
Significance | Pathogenic |
Disease | RRM2B-related mitochondrial disease |
Variation | info |
Gene | RRM2B |
CLNDBN | RRM2B-related mitochondrial disease |
Reversed | 0 |
HGVS | NC_000008.10:g.103225061C>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000119009.2, |