rs1057517559
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057517559(C;C) |
Make rs1057517559(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 112815595 |
Gene | APC |
is a | snp |
is | mentioned by |
dbSNP | rs1057517559 |
dbSNP (classic) | rs1057517559 |
ClinGen | rs1057517559 |
ebi | rs1057517559 |
HLI | rs1057517559 |
Exac | rs1057517559 |
Gnomad | rs1057517559 |
Varsome | rs1057517559 |
LitVar | rs1057517559 |
Map | rs1057517559 |
PheGenI | rs1057517559 |
Biobank | rs1057517559 |
1000 genomes | rs1057517559 |
hgdp | rs1057517559 |
ensembl | rs1057517559 |
geneview | rs1057517559 |
scholar | rs1057517559 |
rs1057517559 | |
pharmgkb | rs1057517559 |
gwascentral | rs1057517559 |
openSNP | rs1057517559 |
23andMe | rs1057517559 |
SNPshot | rs1057517559 |
SNPdbe | rs1057517559 |
MSV3d | rs1057517559 |
GWAS Ctlg | rs1057517559 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517559(C;C) |
Alt | rs1057517559(C;C) |
Reference | Rs1057517559(T;T) |
Significance | Probable-Pathogenic |
Disease | Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | APC |
CLNDBN | Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.112151292T>C |
CLNSRC | |
CLNACC | RCV000410141.1, RCV000491460.1, |