Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359304
rs80359304
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR [Analysis of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China]. 18393245

2008
dbSNP: rs80358785
rs80358785
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR [Analysis of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China]. 18393245

2008
dbSNP: rs876660130
rs876660130
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR [A novel APC gene germline mutation in a familial adenomatous polyposis pedigree]. 16883523

2006
dbSNP: rs80357973
rs80357973
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR [5589del8: the recurrent mutation of BRCA1 gene in Chinese breast cancer patients]. 17680524

2007
dbSNP: rs80358018
rs80358018
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers. 16287141

2005
dbSNP: rs80357347
rs80357347
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers. 16287141

2005
dbSNP: rs80356888
rs80356888
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers. 16287141

2005
dbSNP: rs397509286
rs397509286
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers. 16287141

2005
dbSNP: rs397508939
rs397508939
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers. 16287141

2005
dbSNP: rs63749873
rs63749873
MSH6 ; FBXO11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome. 22081473

2012
dbSNP: rs587782111
rs587782111
MSH6 ; FBXO11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome. 22081473

2012
dbSNP: rs267608094
rs267608094
MSH6 ; FBXO11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome. 22081473

2012
dbSNP: rs267608050
rs267608050
MSH6 ; FBXO11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome. 22081473

2012
dbSNP: rs1114167767
rs1114167767
MSH6 ; FBXO11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome. 22081473

2012
dbSNP: rs80338844
rs80338844
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
dbSNP: rs786203251
rs786203251
SDHB
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
dbSNP: rs786203251
rs786203251
SDHB
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
dbSNP: rs772551056
rs772551056
SDHB
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
dbSNP: rs772551056
rs772551056
SDHB
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
dbSNP: rs74315368
rs74315368
SDHB
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
dbSNP: rs587778661
rs587778661
SDHC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
dbSNP: rs570278423
rs570278423
SDHB
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
dbSNP: rs104894304
rs104894304
SDHD
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
dbSNP: rs876660807
rs876660807
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Yeast functional assay of the p53 gene status in human cell lines maintained in our laboratory. 9359923

1997
dbSNP: rs80357034
rs80357034
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Yeast cells reveal the misfolding and the cellular mislocalization of the human BRCA1 protein. 27802165

2016