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rs1057519943

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519943(C;G)
Make rs1057519943(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position132676598
GenePOLE
is asnp
is mentioned by
dbSNPrs1057519943
dbSNP (classic)rs1057519943
ClinGenrs1057519943
ebirs1057519943
HLIrs1057519943
Exacrs1057519943
Gnomadrs1057519943
Varsomers1057519943
LitVarrs1057519943
Maprs1057519943
PheGenIrs1057519943
Biobankrs1057519943
1000 genomesrs1057519943
hgdprs1057519943
ensemblrs1057519943
geneviewrs1057519943
scholarrs1057519943
googlers1057519943
pharmgkbrs1057519943
gwascentralrs1057519943
openSNPrs1057519943
23andMers1057519943
SNPshotrs1057519943
SNPdbers1057519943
MSV3drs1057519943
GWAS Ctlgrs1057519943
Max Magnitude0
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,