rs863224926
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863224926(C;C) |
Make rs863224926(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 133356268 |
Gene | SURF1, SURF2 |
is a | snp |
is | mentioned by |
dbSNP | rs863224926 |
dbSNP (classic) | rs863224926 |
ClinGen | rs863224926 |
ebi | rs863224926 |
HLI | rs863224926 |
Exac | rs863224926 |
Gnomad | rs863224926 |
Varsome | rs863224926 |
LitVar | rs863224926 |
Map | rs863224926 |
PheGenI | rs863224926 |
Biobank | rs863224926 |
1000 genomes | rs863224926 |
hgdp | rs863224926 |
ensembl | rs863224926 |
geneview | rs863224926 |
scholar | rs863224926 |
rs863224926 | |
pharmgkb | rs863224926 |
gwascentral | rs863224926 |
openSNP | rs863224926 |
23andMe | rs863224926 |
SNPshot | rs863224926 |
SNPdbe | rs863224926 |
MSV3d | rs863224926 |
GWAS Ctlg | rs863224926 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224926(C;C) |
Alt | rs863224926(C;C) |
Reference | Rs863224926(G;G) |
Significance | Probable-Pathogenic |
Disease | Leigh syndrome |
Variation | info |
Gene | SURF2 SURF1 |
CLNDBN | Leigh syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.136223123C>G |
CLNSRC | |
CLNACC | RCV000196131.1, |