rs786203752
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 6.7 | CDH1-based gastric cancer risk |
(T;T) | 0 | common in clinvar |
Make rs786203752(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 68829788 |
Gene | CDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs786203752 |
dbSNP (classic) | rs786203752 |
ClinGen | rs786203752 |
ebi | rs786203752 |
HLI | rs786203752 |
Exac | rs786203752 |
Gnomad | rs786203752 |
Varsome | rs786203752 |
LitVar | rs786203752 |
Map | rs786203752 |
PheGenI | rs786203752 |
Biobank | rs786203752 |
1000 genomes | rs786203752 |
hgdp | rs786203752 |
ensembl | rs786203752 |
geneview | rs786203752 |
scholar | rs786203752 |
rs786203752 | |
pharmgkb | rs786203752 |
gwascentral | rs786203752 |
openSNP | rs786203752 |
23andMe | rs786203752 |
SNPshot | rs786203752 |
SNPdbe | rs786203752 |
MSV3d | rs786203752 |
GWAS Ctlg | rs786203752 |
Max Magnitude | 6.7 |
Also known as c.2430delT, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs786203752(-;-) |
Alt | rs786203752(-;-) |
Reference | Rs786203752(T;T) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Hereditary diffuse gastric cancer not provided |
Variation | info |
Gene | CDH1 |
CLNDBN | Hereditary cancer-predisposing syndrome Hereditary diffuse gastric cancer not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.68863691delT |
CLNSRC | |
CLNACC | RCV000167195.1, RCV000204049.2, RCV000484305.1, |