rs786203067
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;ACTC) | 6.2 | Hereditary PGL/PCC Syndrome |
(CTCA;CTCA) | 0 | common in clinvar |
Make rs786203067(-;-) |
Make rs786203067(ACTC;ACTC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 112088995 |
Gene | SDHD |
is a | snp |
is | mentioned by |
dbSNP | rs786203067 |
dbSNP (classic) | rs786203067 |
ClinGen | rs786203067 |
ebi | rs786203067 |
HLI | rs786203067 |
Exac | rs786203067 |
Gnomad | rs786203067 |
Varsome | rs786203067 |
LitVar | rs786203067 |
Map | rs786203067 |
PheGenI | rs786203067 |
Biobank | rs786203067 |
1000 genomes | rs786203067 |
hgdp | rs786203067 |
ensembl | rs786203067 |
geneview | rs786203067 |
scholar | rs786203067 |
rs786203067 | |
pharmgkb | rs786203067 |
gwascentral | rs786203067 |
openSNP | rs786203067 |
23andMe | rs786203067 |
SNPshot | rs786203067 |
SNPdbe | rs786203067 |
MSV3d | rs786203067 |
GWAS Ctlg | rs786203067 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs786203067(-;-) |
Alt | rs786203067(-;-) |
Reference | Rs786203067(CTCA;CTCA) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | SDHD |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.111959719_111959722delACTC |
CLNSRC | |
CLNACC | RCV000166207.1, |