Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200932258
rs200932258
CDH1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT

dbSNP: rs372989292
rs372989292
CDH1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT

dbSNP: rs587782798
rs587782798
CDH1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR

dbSNP: rs869312765
rs869312765
CDH1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR

dbSNP: rs876658932
rs876658932
CDH1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR

dbSNP: rs13689
rs13689
CDH1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 GeneticVariation BEFREE Four SNPs [rs3218550 (XRCC2), rs6917 (PHB), rs1801516 (ATM), and rs1368</span>9 (CDH1)] were significantly associated with risk of breast cancer. 29433565

2018
dbSNP: rs13689
rs13689
CDH1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 GeneticVariation BEFREE For survival analyses, the results demonstrated that the minor allele homozygotes of rs13689 and haplotype TGC in CDH1 were linked with unfavorable event-free survival of breast cancer, whereas, rs4783689 of CDH1 showed the opposite effect under dominant model. 26285011

2015
dbSNP: rs12185157
rs12185157
CDH1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE For association analyses of germline variants with breast cancer susceptibility, the results showed that rs7200690, rs7198799, rs17715799, rs13689 and diplotype CGC/TGC (rs7200690 + rs12185157 + rs7198799) in CDH1 as well as rs2293303 in CTNNB1 were associated with increased breast cancer risk. 26285011

2015
dbSNP: rs16260
rs16260
CDH1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE A significant association was found between TP53Arg72Pro (rs1042522) and CDH1 -160 C/A (rs16260) polymorphisms and breast cancer risk. 26666818

2016
dbSNP: rs17715799
rs17715799
CDH1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE For association analyses of germline variants with breast cancer susceptibility, the results showed that rs7200690, rs7198799, rs17715799</span>, rs13689 and diplotype CGC/TGC (rs7200690 + rs12185157 + rs7198799) in CDH1 as well as rs2293303 in CTNNB1 were associated with increased breast cancer risk. 26285011

2015
dbSNP: rs7198799
rs7198799
CDH1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE For association analyses of germline variants with breast cancer susceptibility, the results showed that rs7200690, rs7198799, rs17715799, rs13689 and diplotype CGC/TGC (rs7200690 + rs12185157 + rs7198799) in CDH1 as well as rs2293303 in CTNNB1 were associated with increased breast cancer risk. 26285011

2015
dbSNP: rs7200690
rs7200690
CDH1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE For association analyses of germline variants with breast cancer susceptibility, the results showed that rs7200690, rs7198799, rs17715799, rs13689 and diplotype CGC/TGC (rs7200690 + rs12185157 + rs7198799) in CDH1 as well as rs2293303 in CTNNB1 were associated with increased breast cancer risk. 26285011

2015
dbSNP: rs786202482
rs786202482
CDH1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE We also identified a likely damaging germline rs35352891 in the MUTYH gene (c.1118C>T, p.Ala373Val) in one Buryat Mongol BC patient. 31273614

2019