rs876658932
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 5 | Hereditary diffuse gastric cancer |
Make rs876658932(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 68801726 |
Gene | CDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs876658932 |
dbSNP (classic) | rs876658932 |
ClinGen | rs876658932 |
ebi | rs876658932 |
HLI | rs876658932 |
Exac | rs876658932 |
Gnomad | rs876658932 |
Varsome | rs876658932 |
LitVar | rs876658932 |
Map | rs876658932 |
PheGenI | rs876658932 |
Biobank | rs876658932 |
1000 genomes | rs876658932 |
hgdp | rs876658932 |
ensembl | rs876658932 |
geneview | rs876658932 |
scholar | rs876658932 |
rs876658932 | |
pharmgkb | rs876658932 |
gwascentral | rs876658932 |
openSNP | rs876658932 |
23andMe | rs876658932 |
SNPshot | rs876658932 |
SNPdbe | rs876658932 |
MSV3d | rs876658932 |
GWAS Ctlg | rs876658932 |
Max Magnitude | 5 |
Also known as c.220C>T, p.Arg74Ter or R74X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs876658932(G;G) rs876658932(T;T) |
Alt | rs876658932(G;G) rs876658932(T;T) |
Reference | Rs876658932(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Hereditary diffuse gastric cancer |
Variation | info |
Gene | CDH1 |
CLNDBN | Hereditary cancer-predisposing syndrome Hereditary diffuse gastric cancer |
Reversed | 0 |
HGVS | NC_000016.9:g.68835629C>G; NC_000016.9:g.68835629C>T |
CLNSRC | |
CLNACC | RCV000218864.1, RCV000227616.2, |