rs587779352
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;ACAAA) | 6.5 | Familial Adenomatous Polyposis |
(AAAAC;AAAAC) | 0 | common in clinvar |
(ACAAA;ACAAA) | 0 | common/normal |
Make rs587779352(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 112838777 |
Gene | APC |
is a | snp |
is | mentioned by |
dbSNP | rs587779352 |
dbSNP (classic) | rs587779352 |
ClinGen | rs587779352 |
ebi | rs587779352 |
HLI | rs587779352 |
Exac | rs587779352 |
Gnomad | rs587779352 |
Varsome | rs587779352 |
LitVar | rs587779352 |
Map | rs587779352 |
PheGenI | rs587779352 |
Biobank | rs587779352 |
1000 genomes | rs587779352 |
hgdp | rs587779352 |
ensembl | rs587779352 |
geneview | rs587779352 |
scholar | rs587779352 |
rs587779352 | |
pharmgkb | rs587779352 |
gwascentral | rs587779352 |
openSNP | rs587779352 |
23andMe | rs587779352 |
SNPshot | rs587779352 |
SNPdbe | rs587779352 |
MSV3d | rs587779352 |
GWAS Ctlg | rs587779352 |
Merged from | Rs863224456 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs587779352(-;-) Rs587779352(AAAAC;AAAAC) |
Alt | rs587779352(-;-) Rs587779352(AAAAC;AAAAC) |
Reference | Rs587779352(ACAAA;ACAAA) |
Significance | Pathogenic |
Disease | not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | APC |
CLNDBN | not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.112174474_112174478delACAAA |
CLNSRC | HGMD |
CLNACC | RCV000077987.5, RCV000144562.5, RCV000162768.3, |