rs515726192
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs515726192(C;T) |
Make rs515726192(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 102218915 |
Gene | RRM2B |
is a | snp |
is | mentioned by |
dbSNP | rs515726192 |
dbSNP (classic) | rs515726192 |
ClinGen | rs515726192 |
ebi | rs515726192 |
HLI | rs515726192 |
Exac | rs515726192 |
Gnomad | rs515726192 |
Varsome | rs515726192 |
LitVar | rs515726192 |
Map | rs515726192 |
PheGenI | rs515726192 |
Biobank | rs515726192 |
1000 genomes | rs515726192 |
hgdp | rs515726192 |
ensembl | rs515726192 |
geneview | rs515726192 |
scholar | rs515726192 |
rs515726192 | |
pharmgkb | rs515726192 |
gwascentral | rs515726192 |
openSNP | rs515726192 |
23andMe | rs515726192 |
SNPshot | rs515726192 |
SNPdbe | rs515726192 |
MSV3d | rs515726192 |
GWAS Ctlg | rs515726192 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726192(T;T) |
Alt | rs515726192(T;T) |
Reference | Rs515726192(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.103231143C>T |
CLNSRC | ClinVar |
CLNACC | RCV000119001.2, |