rs587780784
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.7 | CDH1-based gastric cancer risk |
Make rs587780784(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 68811854 |
Gene | CDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs587780784 |
dbSNP (classic) | rs587780784 |
ClinGen | rs587780784 |
ebi | rs587780784 |
HLI | rs587780784 |
Exac | rs587780784 |
Gnomad | rs587780784 |
Varsome | rs587780784 |
LitVar | rs587780784 |
Map | rs587780784 |
PheGenI | rs587780784 |
Biobank | rs587780784 |
1000 genomes | rs587780784 |
hgdp | rs587780784 |
ensembl | rs587780784 |
geneview | rs587780784 |
scholar | rs587780784 |
rs587780784 | |
pharmgkb | rs587780784 |
gwascentral | rs587780784 |
openSNP | rs587780784 |
23andMe | rs587780784 |
SNPshot | rs587780784 |
SNPdbe | rs587780784 |
MSV3d | rs587780784 |
GWAS Ctlg | rs587780784 |
Max Magnitude | 6.7 |
Also known as c.1003C>T, p.Arg335Ter or R335X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs587780784(G;G) rs587780784(T;T) |
Alt | rs587780784(G;G) rs587780784(T;T) |
Reference | Rs587780784(C;C) |
Significance | Pathogenic |
Disease | Hereditary diffuse gastric cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | CDH1 |
CLNDBN | Hereditary diffuse gastric cancer Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.68845757C>T |
CLNSRC | |
CLNACC | RCV000123230.3, RCV000130670.2, RCV000218355.1, |