rs200273673
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200273673(C;T) |
Make rs200273673(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 102232231 |
Gene | RRM2B |
is a | snp |
is | mentioned by |
dbSNP | rs200273673 |
dbSNP (classic) | rs200273673 |
ClinGen | rs200273673 |
ebi | rs200273673 |
HLI | rs200273673 |
Exac | rs200273673 |
Gnomad | rs200273673 |
Varsome | rs200273673 |
LitVar | rs200273673 |
Map | rs200273673 |
PheGenI | rs200273673 |
Biobank | rs200273673 |
1000 genomes | rs200273673 |
hgdp | rs200273673 |
ensembl | rs200273673 |
geneview | rs200273673 |
scholar | rs200273673 |
rs200273673 | |
pharmgkb | rs200273673 |
gwascentral | rs200273673 |
openSNP | rs200273673 |
23andMe | rs200273673 |
SNPshot | rs200273673 |
SNPdbe | rs200273673 |
MSV3d | rs200273673 |
GWAS Ctlg | rs200273673 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200273673(G;G) rs200273673(T;T) |
Alt | rs200273673(G;G) rs200273673(T;T) |
Reference | Rs200273673(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.103244459C>G; NC_000008.10:g.103244459C>T |
CLNSRC | ClinVar |
CLNACC | RCV000118985.2, RCV000118984.2, |