rs786205146
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 6.2 | Hereditary PGL/PCC Syndrome |
(T;T) | 0 | common in clinvar |
Make rs786205146(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 161314411 |
Gene | SDHC |
is a | snp |
is | mentioned by |
dbSNP | rs786205146 |
dbSNP (classic) | rs786205146 |
ClinGen | rs786205146 |
ebi | rs786205146 |
HLI | rs786205146 |
Exac | rs786205146 |
Gnomad | rs786205146 |
Varsome | rs786205146 |
LitVar | rs786205146 |
Map | rs786205146 |
PheGenI | rs786205146 |
Biobank | rs786205146 |
1000 genomes | rs786205146 |
hgdp | rs786205146 |
ensembl | rs786205146 |
geneview | rs786205146 |
scholar | rs786205146 |
rs786205146 | |
pharmgkb | rs786205146 |
gwascentral | rs786205146 |
openSNP | rs786205146 |
23andMe | rs786205146 |
SNPshot | rs786205146 |
SNPdbe | rs786205146 |
MSV3d | rs786205146 |
GWAS Ctlg | rs786205146 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs786205146(-;-) |
Alt | rs786205146(-;-) |
Reference | Rs786205146(T;T) |
Significance | Pathogenic |
Disease | Carney triad Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | SDHC |
CLNDBN | Carney triad Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.161284201delT |
CLNSRC | National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development |
CLNACC | RCV000170331.1, RCV000492519.1, |