rs121964877
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 rs121964877(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 68822081 |
Gene | CDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs121964877 |
dbSNP (classic) | rs121964877 |
ClinGen | rs121964877 |
ebi | rs121964877 |
HLI | rs121964877 |
Exac | rs121964877 |
Gnomad | rs121964877 |
Varsome | rs121964877 |
LitVar | rs121964877 |
Map | rs121964877 |
PheGenI | rs121964877 |
Biobank | rs121964877 |
1000 genomes | rs121964877 |
hgdp | rs121964877 |
ensembl | rs121964877 |
geneview | rs121964877 |
scholar | rs121964877 |
rs121964877 | |
pharmgkb | rs121964877 |
gwascentral | rs121964877 |
openSNP | rs121964877 |
23andMe | rs121964877 |
SNPshot | rs121964877 |
SNPdbe | rs121964877 |
MSV3d | rs121964877 |
GWAS Ctlg | rs121964877 |
Max Magnitude | 6.7 |
Also known as c.1792C>T, p.Arg598Ter and R598X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs121964877(G;G) rs121964877(T;T) |
Alt | rs121964877(G;G) rs121964877(T;T) |
Reference | Rs121964877(C;C) |
Significance | Pathogenic |
Disease | Hereditary diffuse gastric cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | CDH1 |
CLNDBN | Hereditary diffuse gastric cancer Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.68855984C>G; NC_000016.9:g.68855984C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000470902.1, RCV000013028.24, RCV000213248.1, RCV000484230.1, |