rs121964874
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 rs121964874(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 68823557 |
Gene | CDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs121964874 |
dbSNP (classic) | rs121964874 |
ClinGen | rs121964874 |
ebi | rs121964874 |
HLI | rs121964874 |
Exac | rs121964874 |
Gnomad | rs121964874 |
Varsome | rs121964874 |
LitVar | rs121964874 |
Map | rs121964874 |
PheGenI | rs121964874 |
Biobank | rs121964874 |
1000 genomes | rs121964874 |
hgdp | rs121964874 |
ensembl | rs121964874 |
geneview | rs121964874 |
scholar | rs121964874 |
rs121964874 | |
pharmgkb | rs121964874 |
gwascentral | rs121964874 |
openSNP | rs121964874 |
23andMe | rs121964874 |
SNPshot | rs121964874 |
SNPdbe | rs121964874 |
MSV3d | rs121964874 |
GWAS Ctlg | rs121964874 |
Max Magnitude | 6.7 |
Also known as c.2095C>T or p.Gln699Ter, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs121964874(A;A) rs121964874(G;G) rs121964874(T;T) |
Alt | rs121964874(A;A) rs121964874(G;G) rs121964874(T;T) |
Reference | Rs121964874(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.68857460C>G; NC_000016.9:g.68857460C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000132483.2, RCV000013024.25, |