Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2234693
rs2234693
0.020 GeneticVariation BEFREE These results suggest that <i>ESR1</i> PvuII (rs2234693 T>C) polymorphism may only have little impact on cancer susceptibility. 30123365

2018

dbSNP: rs1801132
rs1801132
0.020 GeneticVariation BEFREE The results indicated that ESR1 rs1801132 (C>G) was associated with cancer risk in Caucasian populations. 25200861

2015

dbSNP: rs2077647
rs2077647
0.020 GeneticVariation BEFREE Furthermore, rs2077647 (A>G) was only associated with an increased risk of hepatocellular carcinoma, but was an adverse effect on cancer risk in Caucasian populations. 25200861

2015

dbSNP: rs1801132
rs1801132
0.020 GeneticVariation BEFREE The minor G allele of rs1801132 was protective in our cases (p = 1 × 10(-4)); for rs2228480, the heterozygous frequency was higher for cancer groups (p = 0.03); the SNP pairs rs2228480&rs3798577 and rs2234693&rs9340799 were in low LD; the haplotypes T-A of rs2234693&rs9340799 and G-C of rs2228480&rs3798577 showed a trend to be higher represented in breast cancers; T allele of rs2234693 was higher expressed in breast, colon cancers and leukemia; rs2077647 was associated with colon (p = 0.008, C-risk allele) and bladder (p = 0.01, T-risk allele) cancers. 20383761

2010

dbSNP: rs2077647
rs2077647
0.020 GeneticVariation BEFREE The minor G allele of rs1801132 was protective in our cases (p = 1 × 10(-4)); for rs2228480, the heterozygous frequency was higher for cancer groups (p = 0.03); the SNP pairs rs2228480&rs3798577 and rs2234693&rs9340799 were in low LD; the haplotypes T-A of rs2234693&rs9340799 and G-C of rs2228480&rs3798577 showed a trend to be higher represented in breast cancers; T allele of rs2234693 was higher expressed in breast, colon cancers and leukemia; rs2077647 was associated with colon (p = 0.008, C-risk allele) and bladder (p = 0.01, T-risk allele) cancers. 20383761

2010

dbSNP: rs2234693
rs2234693
0.020 GeneticVariation BEFREE The minor G allele of rs1801132 was protective in our cases (p = 1 × 10(-4)); for rs2228480, the heterozygous frequency was higher for cancer groups (p = 0.03); the SNP pairs rs2228480&rs3798577 and rs2234693&rs9340799 were in low LD; the haplotypes T-A of rs2234693&rs9340799 and G-C of rs2228480&rs3798577 showed a trend to be higher represented in breast cancers; T allele of rs2234693 was higher expressed in breast, colon cancers and leukemia; rs2077647 was associated with colon (p = 0.008, C-risk allele) and bladder (p = 0.01, T-risk allele) cancers. 20383761

2010

dbSNP: rs796065354
rs796065354
0.020 GeneticVariation BEFREE Here we show that ER-alpha proteins with single or double lysine mutations of these motifs (including K303R, a cancer-associated mutant) are resistant to inhibition by BRCA1, even though the mutant ER-alpha proteins retain the ability to bind to BRCA1. 19887647

2010

dbSNP: rs796065354
rs796065354
0.020 GeneticVariation BEFREE The fact that the mutation was not found leads us to believe that this mutation is absent from most cells in invasive carcinomas and furthermore that the major expression product of the ER-alpha gene in cancers does not contain the K303R mutation. 15642159

2005

dbSNP: rs200075329
rs200075329
0.010 GeneticVariation BEFREE Further, there was no difference in the prevalence of S118P between women with and without cancer relative to population registry databases. 30560461

2019

dbSNP: rs762292600
rs762292600
0.010 GeneticVariation BEFREE Conclusion This study provides the first clinical data that AKT1 E17K is a therapeutic target in human cancer. 28489509

2017

dbSNP: rs2228480
rs2228480
0.010 GeneticVariation BEFREE The minor G allele of rs1801132 was protective in our cases (p = 1 × 10(-4)); for rs2228480, the heterozygous frequency was higher for cancer groups (p = 0.03); the SNP pairs rs2228480&rs3798577 and rs2234693&rs9340799 were in low LD; the haplotypes T-A of rs2234693&rs9340799 and G-C of rs2228480&rs3798577 showed a trend to be higher represented in breast cancers; T allele of rs2234693 was higher expressed in breast, colon cancers and leukemia; rs2077647 was associated with colon (p = 0.008, C-risk allele) and bladder (p = 0.01, T-risk allele) cancers. 20383761

2010

dbSNP: rs772596249
rs772596249
0.010 GeneticVariation BEFREE One of the five tagSNPs in this region was in strong linkage disequilibrium (LD) with the untranslated A61G (rs4444903) EGF variant, earlier shown to be associated with risk for other forms of cancer. 19319135

2009

dbSNP: rs149308960
rs149308960
0.010 GeneticVariation BEFREE Three patients with a family history of cancer were carrying a Gly160Cys germline substitution. 9195227

1997