rs587783047
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 rs587783047(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 68801693 |
Gene | CDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs587783047 |
dbSNP (classic) | rs587783047 |
ClinGen | rs587783047 |
ebi | rs587783047 |
HLI | rs587783047 |
Exac | rs587783047 |
Gnomad | rs587783047 |
Varsome | rs587783047 |
LitVar | rs587783047 |
Map | rs587783047 |
PheGenI | rs587783047 |
Biobank | rs587783047 |
1000 genomes | rs587783047 |
hgdp | rs587783047 |
ensembl | rs587783047 |
geneview | rs587783047 |
scholar | rs587783047 |
rs587783047 | |
pharmgkb | rs587783047 |
gwascentral | rs587783047 |
openSNP | rs587783047 |
23andMe | rs587783047 |
SNPshot | rs587783047 |
SNPdbe | rs587783047 |
MSV3d | rs587783047 |
GWAS Ctlg | rs587783047 |
Max Magnitude | 6.7 |
Also known as c.187C>T, p.Arg63Ter or R63X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs587783047(T;T) |
Alt | rs587783047(T;T) |
Reference | Rs587783047(C;C) |
Significance | Pathogenic |
Disease | Hereditary diffuse gastric cancer |
Variation | info |
Gene | CDH1 |
CLNDBN | Hereditary diffuse gastric cancer |
Reversed | 0 |
HGVS | NC_000016.9:g.68835596C>T |
CLNSRC | |
CLNACC | RCV000144590.2, |