rs878854628
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs878854628(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 236600 |
Gene | SDHA |
is a | snp |
is | mentioned by |
dbSNP | rs878854628 |
dbSNP (classic) | rs878854628 |
ClinGen | rs878854628 |
ebi | rs878854628 |
HLI | rs878854628 |
Exac | rs878854628 |
Gnomad | rs878854628 |
Varsome | rs878854628 |
LitVar | rs878854628 |
Map | rs878854628 |
PheGenI | rs878854628 |
Biobank | rs878854628 |
1000 genomes | rs878854628 |
hgdp | rs878854628 |
ensembl | rs878854628 |
geneview | rs878854628 |
scholar | rs878854628 |
rs878854628 | |
pharmgkb | rs878854628 |
gwascentral | rs878854628 |
openSNP | rs878854628 |
23andMe | rs878854628 |
SNPshot | rs878854628 |
SNPdbe | rs878854628 |
MSV3d | rs878854628 |
GWAS Ctlg | rs878854628 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs878854628(C;C) |
Alt | rs878854628(C;C) |
Reference | Rs878854628(G;G) |
Significance | Probable-Pathogenic |
Disease | Mitochondrial complex II deficiency Paragangliomas 5 |
Variation | info |
Gene | SDHA |
CLNDBN | Mitochondrial complex II deficiency Paragangliomas 5 |
Reversed | 0 |
HGVS | NC_000005.9:g.236715G>C |
CLNSRC | |
CLNACC | RCV000230417.1, |