Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060503118
rs1060503118
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE From the Colon Cancer Family Registry, we identified 10 carriers who had both a MUTYH mutation (6 with c.1187G>A p.(Gly396Asp), 3 with c.821G>A p.(Arg274Gln), and 1 with c.536A>G p.(Tyr179Cys)) and a MMR gene mutation (3 in MLH1, 6 in MSH2, and 1 in PMS2), 375 carriers of a single (monoallelic) MUTYH mutation alone, and 469 carriers of a MMR gene mutation alone. 26202870 2015
dbSNP: rs1450081432
rs1450081432
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE From the Colon Cancer Family Registry, we identified 10 carriers who had both a MUTYH mutation (6 with c.1187G>A p.(Gly396Asp), 3 with c.821G>A p.(Arg274Gln), and 1 with c.536A>G p.(Tyr179Cys)) and a MMR gene mutation (3 in MLH1, 6 in MSH2, and 1 in PMS2), 375 carriers of a single (monoallelic) MUTYH mutation alone, and 469 carriers of a MMR gene mutation alone. 26202870 2015
dbSNP: rs587782513
rs587782513
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE From the Colon Cancer Family Registry, we identified 10 carriers who had both a MUTYH mutation (6 with c.1187G>A p.(Gly396Asp), 3 with c.821G>A p.(Arg274Gln), and 1 with c.536A>G p.(Tyr179Cys)) and a MMR gene mutation (3 in MLH1, 6 in MSH2, and 1 in PMS2), 375 carriers of a single (monoallelic) MUTYH mutation alone, and 469 carriers of a MMR gene mutation alone. 26202870 2015
dbSNP: rs762100304
rs762100304
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE From the Colon Cancer Family Registry, we identified 10 carriers who had both a MUTYH mutation (6 with c.1187G>A p.(Gly396Asp), 3 with c.821G>A p.(Arg274Gln), and 1 with c.536A>G p.(Tyr179Cys)) and a MMR gene mutation (3 in MLH1, 6 in MSH2, and 1 in PMS2), 375 carriers of a single (monoallelic) MUTYH mutation alone, and 469 carriers of a MMR gene mutation alone. 26202870 2015