rs863224505
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 5 | Hereditary cancer-predisposing syndrome; gastric cancer related? |
(T;T) | 0 | common in clinvar |
Make rs863224505(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 68812189 |
Gene | CDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224505 |
dbSNP (classic) | rs863224505 |
ClinGen | rs863224505 |
ebi | rs863224505 |
HLI | rs863224505 |
Exac | rs863224505 |
Gnomad | rs863224505 |
Varsome | rs863224505 |
LitVar | rs863224505 |
Map | rs863224505 |
PheGenI | rs863224505 |
Biobank | rs863224505 |
1000 genomes | rs863224505 |
hgdp | rs863224505 |
ensembl | rs863224505 |
geneview | rs863224505 |
scholar | rs863224505 |
rs863224505 | |
pharmgkb | rs863224505 |
gwascentral | rs863224505 |
openSNP | rs863224505 |
23andMe | rs863224505 |
SNPshot | rs863224505 |
SNPdbe | rs863224505 |
MSV3d | rs863224505 |
GWAS Ctlg | rs863224505 |
Merged from | Rs869312764 |
Max Magnitude | 5 |
Also known as c.1064delT, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs863224505(-;-) |
Alt | rs863224505(-;-) |
Reference | Rs863224505(T;T) |
Significance | Pathogenic |
Disease | Hereditary diffuse gastric cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | CDH1 |
CLNDBN | Hereditary diffuse gastric cancer Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.68846093delT |
CLNSRC | |
CLNACC | RCV000196464.1, RCV000210107.1, |