rs137854583
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137854583(C;T) |
Make rs137854583(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 112780880 |
Gene | APC |
is a | snp |
is | mentioned by |
dbSNP | rs137854583 |
dbSNP (classic) | rs137854583 |
ClinGen | rs137854583 |
ebi | rs137854583 |
HLI | rs137854583 |
Exac | rs137854583 |
Gnomad | rs137854583 |
Varsome | rs137854583 |
LitVar | rs137854583 |
Map | rs137854583 |
PheGenI | rs137854583 |
Biobank | rs137854583 |
1000 genomes | rs137854583 |
hgdp | rs137854583 |
ensembl | rs137854583 |
geneview | rs137854583 |
scholar | rs137854583 |
rs137854583 | |
pharmgkb | rs137854583 |
gwascentral | rs137854583 |
openSNP | rs137854583 |
23andMe | rs137854583 |
SNPshot | rs137854583 |
SNPdbe | rs137854583 |
MSV3d | rs137854583 |
GWAS Ctlg | rs137854583 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854583(A;A) rs137854583(T;T) |
Alt | rs137854583(A;A) rs137854583(T;T) |
Reference | Rs137854583(C;C) |
Significance | Pathogenic |
Disease | Familial adenomatous polyposis 1 Gardner syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | APC |
CLNDBN | Familial adenomatous polyposis 1 Gardner syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.112116577C>A; NC_000005.9:g.112116577C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144572.1, RCV000000882.3, RCV000491262.1, |