rs267606712
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.7 | CDH1-based gastric cancer risk |
(G;G) | 0 | common in clinvar |
(G;T) | 6.7 | CDH1-based gastric cancer risk |
Make rs267606712(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 68811859 |
Gene | CDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606712 |
dbSNP (classic) | rs267606712 |
ClinGen | rs267606712 |
ebi | rs267606712 |
HLI | rs267606712 |
Exac | rs267606712 |
Gnomad | rs267606712 |
Varsome | rs267606712 |
LitVar | rs267606712 |
Map | rs267606712 |
PheGenI | rs267606712 |
Biobank | rs267606712 |
1000 genomes | rs267606712 |
hgdp | rs267606712 |
ensembl | rs267606712 |
geneview | rs267606712 |
scholar | rs267606712 |
rs267606712 | |
pharmgkb | rs267606712 |
gwascentral | rs267606712 |
openSNP | rs267606712 |
23andMe | rs267606712 |
SNPshot | rs267606712 |
SNPdbe | rs267606712 |
MSV3d | rs267606712 |
GWAS Ctlg | rs267606712 |
Max Magnitude | 6.7 |
Also known as c.1008G>T, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs267606712(A;A) rs267606712(T;T) |
Alt | rs267606712(A;A) rs267606712(T;T) |
Reference | Rs267606712(G;G) |
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.68845762G>A; NC_000016.9:g.68845762G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000217412.1, RCV000013022.16, |