rs515726184
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTC;CTC) | 0 | common in clinvar |
Make rs515726184(-;-) |
Make rs515726184(-;CTC) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 102225984 |
Gene | RRM2B |
is a | snp |
is | mentioned by |
dbSNP | rs515726184 |
dbSNP (classic) | rs515726184 |
ClinGen | rs515726184 |
ebi | rs515726184 |
HLI | rs515726184 |
Exac | rs515726184 |
Gnomad | rs515726184 |
Varsome | rs515726184 |
LitVar | rs515726184 |
Map | rs515726184 |
PheGenI | rs515726184 |
Biobank | rs515726184 |
1000 genomes | rs515726184 |
hgdp | rs515726184 |
ensembl | rs515726184 |
geneview | rs515726184 |
scholar | rs515726184 |
rs515726184 | |
pharmgkb | rs515726184 |
gwascentral | rs515726184 |
openSNP | rs515726184 |
23andMe | rs515726184 |
SNPshot | rs515726184 |
SNPdbe | rs515726184 |
MSV3d | rs515726184 |
GWAS Ctlg | rs515726184 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726184(-;-) |
Alt | rs515726184(-;-) |
Reference | Rs515726184(CTC;CTC) |
Significance | Pathogenic |
Disease | RRM2B-related mitochondrial disease Camptocormism not provided |
Variation | info |
Gene | RRM2B |
CLNDBN | RRM2B-related mitochondrial disease Camptocormism not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.103238212_103238214delCTC |
CLNSRC | ClinVar |
CLNACC | RCV000118988.2, RCV000186558.1, RCV000413797.1, |