rs730881653
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6.7 | CDH1-based gastric cancer risk |
Make rs730881653(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 68823441 |
Gene | CDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs730881653 |
dbSNP (classic) | rs730881653 |
ClinGen | rs730881653 |
ebi | rs730881653 |
HLI | rs730881653 |
Exac | rs730881653 |
Gnomad | rs730881653 |
Varsome | rs730881653 |
LitVar | rs730881653 |
Map | rs730881653 |
PheGenI | rs730881653 |
Biobank | rs730881653 |
1000 genomes | rs730881653 |
hgdp | rs730881653 |
ensembl | rs730881653 |
geneview | rs730881653 |
scholar | rs730881653 |
rs730881653 | |
pharmgkb | rs730881653 |
gwascentral | rs730881653 |
openSNP | rs730881653 |
23andMe | rs730881653 |
SNPshot | rs730881653 |
SNPdbe | rs730881653 |
MSV3d | rs730881653 |
GWAS Ctlg | rs730881653 |
Max Magnitude | 6.7 |
Also known as c.1979dupT, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs730881653(T;T) |
Alt | rs730881653(T;T) |
Reference | Rs730881653(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | CDH1 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.68857344dupT |
CLNSRC | |
CLNACC | RCV000160368.3, |