rs397516835
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(C;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs397516835(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 17024040 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs397516835 |
dbSNP (classic) | rs397516835 |
ClinGen | rs397516835 |
ebi | rs397516835 |
HLI | rs397516835 |
Exac | rs397516835 |
Gnomad | rs397516835 |
Varsome | rs397516835 |
LitVar | rs397516835 |
Map | rs397516835 |
PheGenI | rs397516835 |
Biobank | rs397516835 |
1000 genomes | rs397516835 |
hgdp | rs397516835 |
ensembl | rs397516835 |
geneview | rs397516835 |
scholar | rs397516835 |
rs397516835 | |
pharmgkb | rs397516835 |
gwascentral | rs397516835 |
openSNP | rs397516835 |
23andMe | rs397516835 |
SNPshot | rs397516835 |
SNPdbe | rs397516835 |
MSV3d | rs397516835 |
GWAS Ctlg | rs397516835 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs397516835(A;A) rs397516835(C;C) |
Alt | rs397516835(A;A) rs397516835(C;C) |
Reference | Rs397516835(G;G) |
Significance | Pathogenic |
Disease | Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | SDHB |
CLNDBN | Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.17350535C>G; NC_000001.10:g.17350535C>T |
CLNSRC | ClinVar Ambry Genetics |
CLNACC | RCV000037722.2, RCV000130852.3, |