rs786201045
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AG) | 5 | Hereditary cancer-predisposing syndrome; gastric cancer related? |
(AG;AG) | 0 | common in clinvar |
Make rs786201045(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 68812135 |
Gene | CDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs786201045 |
dbSNP (classic) | rs786201045 |
ClinGen | rs786201045 |
ebi | rs786201045 |
HLI | rs786201045 |
Exac | rs786201045 |
Gnomad | rs786201045 |
Varsome | rs786201045 |
LitVar | rs786201045 |
Map | rs786201045 |
PheGenI | rs786201045 |
Biobank | rs786201045 |
1000 genomes | rs786201045 |
hgdp | rs786201045 |
ensembl | rs786201045 |
geneview | rs786201045 |
scholar | rs786201045 |
rs786201045 | |
pharmgkb | rs786201045 |
gwascentral | rs786201045 |
openSNP | rs786201045 |
23andMe | rs786201045 |
SNPshot | rs786201045 |
SNPdbe | rs786201045 |
MSV3d | rs786201045 |
GWAS Ctlg | rs786201045 |
Max Magnitude | 5 |
Also known as c.1009_1010delAG, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs786201045(-;-) |
Alt | rs786201045(-;-) |
Reference | Rs786201045(AG;AG) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | CDH1 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.68846038_68846039delAG |
CLNSRC | |
CLNACC | RCV000162429.1, |