rs1057519943
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057519943(C;G) |
Make rs1057519943(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 132676598 |
Gene | POLE |
is a | snp |
is | mentioned by |
dbSNP | rs1057519943 |
dbSNP (classic) | rs1057519943 |
ClinGen | rs1057519943 |
ebi | rs1057519943 |
HLI | rs1057519943 |
Exac | rs1057519943 |
Gnomad | rs1057519943 |
Varsome | rs1057519943 |
LitVar | rs1057519943 |
Map | rs1057519943 |
PheGenI | rs1057519943 |
Biobank | rs1057519943 |
1000 genomes | rs1057519943 |
hgdp | rs1057519943 |
ensembl | rs1057519943 |
geneview | rs1057519943 |
scholar | rs1057519943 |
rs1057519943 | |
pharmgkb | rs1057519943 |
gwascentral | rs1057519943 |
openSNP | rs1057519943 |
23andMe | rs1057519943 |
SNPshot | rs1057519943 |
SNPdbe | rs1057519943 |
MSV3d | rs1057519943 |
GWAS Ctlg | rs1057519943 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519943(A;A) rs1057519943(G;G) |
Alt | rs1057519943(A;A) rs1057519943(G;G) |
Reference | Rs1057519943(C;C) |
Significance | Probable-Pathogenic |
Disease | Pancreatic adenocarcinoma Neoplasm of breast Colorectal Neoplasms Malignant neoplasm of body of uterus Uterine Carcinosarcoma |
Variation | info |
Gene | POLE |
CLNDBN | Pancreatic adenocarcinoma Neoplasm of breast Colorectal Neoplasms Malignant neoplasm of body of uterus Uterine Carcinosarcoma |
Reversed | 1 |
HGVS | NC_000012.11:g.133253184G>C; NC_000012.11:g.133253184G>T |
CLNSRC | |
CLNACC | RCV000426701.1, RCV000427424.1, RCV000437655.1, RCV000443524.1, RCV000443610.1, RCV000417898.1, RCV000428131.1, RCV000428894.1, RCV000438366.1, RCV000439138.1, |