rs587780113
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.7 | CDH1-based gastric cancer risk |
(C;G) | 6.7 | CDH1-based gastric cancer risk |
(G;G) | 0 | common in clinvar |
(G;T) | 6.7 | CDH1-based gastric cancer risk |
Make rs587780113(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 68815760 |
Gene | CDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs587780113 |
dbSNP (classic) | rs587780113 |
ClinGen | rs587780113 |
ebi | rs587780113 |
HLI | rs587780113 |
Exac | rs587780113 |
Gnomad | rs587780113 |
Varsome | rs587780113 |
LitVar | rs587780113 |
Map | rs587780113 |
PheGenI | rs587780113 |
Biobank | rs587780113 |
1000 genomes | rs587780113 |
hgdp | rs587780113 |
ensembl | rs587780113 |
geneview | rs587780113 |
scholar | rs587780113 |
rs587780113 | |
pharmgkb | rs587780113 |
gwascentral | rs587780113 |
openSNP | rs587780113 |
23andMe | rs587780113 |
SNPshot | rs587780113 |
SNPdbe | rs587780113 |
MSV3d | rs587780113 |
GWAS Ctlg | rs587780113 |
Max Magnitude | 6.7 |
Also known as c.1565+1G>A, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs587780113(A;A) rs587780113(C;C) rs587780113(T;T) |
Alt | rs587780113(A;A) rs587780113(C;C) rs587780113(T;T) |
Reference | Rs587780113(G;G) |
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.68849663G>A; NC_000016.9:g.68849663G>C; NC_000016.9:g.68849663G>T |
CLNSRC | |
CLNACC | RCV000115843.5, RCV000123238.2, RCV000212372.2, RCV000465857.1, RCV000129610.2, |