Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886040914
rs886040914
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs886040913
rs886040913
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs886040898
rs886040898
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families. 10755399

2000
dbSNP: rs886040294
rs886040294
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR

dbSNP: rs886040282
rs886040282
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886040251
rs886040251
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886040241
rs886040241
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886040218
rs886040218
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886040205
rs886040205
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs886040185
rs886040185
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886040181
rs886040181
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). 22762150

2012
dbSNP: rs886040146
rs886040146
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886040129
rs886040129
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886040100
rs886040100
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). 22762150

2012
dbSNP: rs886040069
rs886040069
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs886040062
rs886040062
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886040027
rs886040027
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR

dbSNP: rs886040009
rs886040009
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR

dbSNP: rs886039987
rs886039987
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). 22762150

2012
dbSNP: rs886039987
rs886039987
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081

2013
dbSNP: rs886039982
rs886039982
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886039955
rs886039955
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR BRCA1 And BRCA2 analysis of Argentinean breastovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin. 23961350

2012
dbSNP: rs886039946
rs886039946
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886037998
rs886037998
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR

dbSNP: rs886037981
rs886037981
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR