rs587783048
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 6.7 | CDH1-based gastric cancer risk |
(C;C) | 0 | common in clinvar |
Make rs587783048(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 68829756 |
Gene | CDH1 |
is a | snp |
is | mentioned by |
dbSNP | rs587783048 |
dbSNP (classic) | rs587783048 |
ClinGen | rs587783048 |
ebi | rs587783048 |
HLI | rs587783048 |
Exac | rs587783048 |
Gnomad | rs587783048 |
Varsome | rs587783048 |
LitVar | rs587783048 |
Map | rs587783048 |
PheGenI | rs587783048 |
Biobank | rs587783048 |
1000 genomes | rs587783048 |
hgdp | rs587783048 |
ensembl | rs587783048 |
geneview | rs587783048 |
scholar | rs587783048 |
rs587783048 | |
pharmgkb | rs587783048 |
gwascentral | rs587783048 |
openSNP | rs587783048 |
23andMe | rs587783048 |
SNPshot | rs587783048 |
SNPdbe | rs587783048 |
MSV3d | rs587783048 |
GWAS Ctlg | rs587783048 |
Max Magnitude | 6.7 |
Also known as c.2398delC, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs587783048(-;-) |
Alt | rs587783048(-;-) |
Reference | Rs587783048(C;C) |
Significance | Pathogenic |
Disease | Hereditary diffuse gastric cancer |
Variation | info |
Gene | CDH1 |
CLNDBN | Hereditary diffuse gastric cancer |
Reversed | 0 |
HGVS | NC_000016.9:g.68863659delC |
CLNSRC | |
CLNACC | RCV000144591.1, |