rs786202100
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CCTCA) | 6.2 | Hereditary PGL/PCC Syndrome |
(CCTCA;CCTCA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs786202100(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 17044791 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs786202100 |
dbSNP (classic) | rs786202100 |
ClinGen | rs786202100 |
ebi | rs786202100 |
HLI | rs786202100 |
Exac | rs786202100 |
Gnomad | rs786202100 |
Varsome | rs786202100 |
LitVar | rs786202100 |
Map | rs786202100 |
PheGenI | rs786202100 |
Biobank | rs786202100 |
1000 genomes | rs786202100 |
hgdp | rs786202100 |
ensembl | rs786202100 |
geneview | rs786202100 |
scholar | rs786202100 |
rs786202100 | |
pharmgkb | rs786202100 |
gwascentral | rs786202100 |
openSNP | rs786202100 |
23andMe | rs786202100 |
SNPshot | rs786202100 |
SNPdbe | rs786202100 |
MSV3d | rs786202100 |
GWAS Ctlg | rs786202100 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs786202100(-;-) |
Alt | rs786202100(-;-) |
Reference | Rs786202100(CCTCA;CCTCA) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma |
Variation | info |
Gene | SDHB |
CLNDBN | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma |
Reversed | 1 |
HGVS | NC_000001.10:g.17371286_17371290delTGAGG |
CLNSRC | |
CLNACC | RCV000164746.3, RCV000467539.1, |