rs515726198
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs515726198(A;C) |
Make rs515726198(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 102208240 |
Gene | RRM2B |
is a | snp |
is | mentioned by |
dbSNP | rs515726198 |
dbSNP (classic) | rs515726198 |
ClinGen | rs515726198 |
ebi | rs515726198 |
HLI | rs515726198 |
Exac | rs515726198 |
Gnomad | rs515726198 |
Varsome | rs515726198 |
LitVar | rs515726198 |
Map | rs515726198 |
PheGenI | rs515726198 |
Biobank | rs515726198 |
1000 genomes | rs515726198 |
hgdp | rs515726198 |
ensembl | rs515726198 |
geneview | rs515726198 |
scholar | rs515726198 |
rs515726198 | |
pharmgkb | rs515726198 |
gwascentral | rs515726198 |
openSNP | rs515726198 |
23andMe | rs515726198 |
SNPshot | rs515726198 |
SNPdbe | rs515726198 |
MSV3d | rs515726198 |
GWAS Ctlg | rs515726198 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726198(C;C) |
Alt | rs515726198(C;C) |
Reference | Rs515726198(A;A) |
Significance | Pathogenic |
Disease | RRM2B-related mitochondrial disease |
Variation | info |
Gene | RRM2B |
CLNDBN | RRM2B-related mitochondrial disease |
Reversed | 0 |
HGVS | NC_000008.10:g.103220468A>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000119012.2, |