rs138996609
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs138996609(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 17022685 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs138996609 |
dbSNP (classic) | rs138996609 |
ClinGen | rs138996609 |
ebi | rs138996609 |
HLI | rs138996609 |
Exac | rs138996609 |
Gnomad | rs138996609 |
Varsome | rs138996609 |
LitVar | rs138996609 |
Map | rs138996609 |
PheGenI | rs138996609 |
Biobank | rs138996609 |
1000 genomes | rs138996609 |
hgdp | rs138996609 |
ensembl | rs138996609 |
geneview | rs138996609 |
scholar | rs138996609 |
rs138996609 | |
pharmgkb | rs138996609 |
gwascentral | rs138996609 |
openSNP | rs138996609 |
23andMe | rs138996609 |
SNPshot | rs138996609 |
SNPdbe | rs138996609 |
MSV3d | rs138996609 |
GWAS Ctlg | rs138996609 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs138996609(A;A) |
Alt | rs138996609(A;A) |
Reference | Rs138996609(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | SDHB |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.17349180G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000164435.1, |