rs587780787
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 5 | Hereditary cancer-predisposing syndrome; gastric cancer related? |
Make rs587780787(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 68828296 |
Gene | CDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs587780787 |
dbSNP (classic) | rs587780787 |
ClinGen | rs587780787 |
ebi | rs587780787 |
HLI | rs587780787 |
Exac | rs587780787 |
Gnomad | rs587780787 |
Varsome | rs587780787 |
LitVar | rs587780787 |
Map | rs587780787 |
PheGenI | rs587780787 |
Biobank | rs587780787 |
1000 genomes | rs587780787 |
hgdp | rs587780787 |
ensembl | rs587780787 |
geneview | rs587780787 |
scholar | rs587780787 |
rs587780787 | |
pharmgkb | rs587780787 |
gwascentral | rs587780787 |
openSNP | rs587780787 |
23andMe | rs587780787 |
SNPshot | rs587780787 |
SNPdbe | rs587780787 |
MSV3d | rs587780787 |
GWAS Ctlg | rs587780787 |
Max Magnitude | 5 |
Also known as c.2287G>T or p.Glu763Ter, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs587780787(T;T) |
Alt | rs587780787(T;T) |
Reference | Rs587780787(G;G) |
Significance | Pathogenic |
Disease | Hereditary diffuse gastric cancer not provided |
Variation | info |
Gene | CDH1 |
CLNDBN | Hereditary diffuse gastric cancer not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.68862199G>T |
CLNSRC | |
CLNACC | RCV000123245.3, RCV000223099.1, |