rs137854567
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 2 | Familial adenomatous polyposis or benign? Unclear. |
Make rs137854567(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 112819272 |
Gene | APC |
is a | snp |
is | mentioned by |
dbSNP | rs137854567 |
dbSNP (classic) | rs137854567 |
ClinGen | rs137854567 |
ebi | rs137854567 |
HLI | rs137854567 |
Exac | rs137854567 |
Gnomad | rs137854567 |
Varsome | rs137854567 |
LitVar | rs137854567 |
Map | rs137854567 |
PheGenI | rs137854567 |
Biobank | rs137854567 |
1000 genomes | rs137854567 |
hgdp | rs137854567 |
ensembl | rs137854567 |
geneview | rs137854567 |
scholar | rs137854567 |
rs137854567 | |
pharmgkb | rs137854567 |
gwascentral | rs137854567 |
openSNP | rs137854567 |
23andMe | rs137854567 |
SNPshot | rs137854567 |
SNPdbe | rs137854567 |
MSV3d | rs137854567 |
GWAS Ctlg | rs137854567 |
GMAF | 0.0009183 |
Max Magnitude | 2 |
ClinVar | |
---|---|
Risk | rs137854567(A;A) rs137854567(T;T) |
Alt | rs137854567(A;A) rs137854567(T;T) |
Reference | Rs137854567(C;C) |
Significance | Other |
Disease | Hereditary cancer-predisposing syndrome Gardner syndrome not provided not specified Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders |
Variation | info |
Gene | APC |
CLNDBN | Hereditary cancer-predisposing syndrome Gardner syndrome not provided not specified Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders |
Reversed | 0 |
HGVS | NC_000005.9:g.112154969C>A; NC_000005.9:g.112154969C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000223120.1, RCV000000833.5, RCV000034380.1, RCV000115067.6, RCV000120052.4, RCV000122757.7, RCV000315386.1, |