rs747198089
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs747198089(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 17044873 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs747198089 |
dbSNP (classic) | rs747198089 |
ClinGen | rs747198089 |
ebi | rs747198089 |
HLI | rs747198089 |
Exac | rs747198089 |
Gnomad | rs747198089 |
Varsome | rs747198089 |
LitVar | rs747198089 |
Map | rs747198089 |
PheGenI | rs747198089 |
Biobank | rs747198089 |
1000 genomes | rs747198089 |
hgdp | rs747198089 |
ensembl | rs747198089 |
geneview | rs747198089 |
scholar | rs747198089 |
rs747198089 | |
pharmgkb | rs747198089 |
gwascentral | rs747198089 |
openSNP | rs747198089 |
23andMe | rs747198089 |
SNPshot | rs747198089 |
SNPdbe | rs747198089 |
MSV3d | rs747198089 |
GWAS Ctlg | rs747198089 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs747198089(-;-) |
Alt | rs747198089(-;-) |
Reference | Rs747198089(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.17371368delG |
CLNSRC | |
CLNACC | RCV000166126.2, |