Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878855151
rs878855151
BRIP1
CUI: C4016951
Disease: BREAST CANCER, EARLY-ONSET
BREAST CANCER, EARLY-ONSET 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs780020495
rs780020495
BRIP1
CUI: C4016951
Disease: BREAST CANCER, EARLY-ONSET
BREAST CANCER, EARLY-ONSET 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28903098
rs28903098
BRIP1
CUI: C4016951
Disease: BREAST CANCER, EARLY-ONSET
BREAST CANCER, EARLY-ONSET 		C 0.700 CausalMutation CLINVAR

dbSNP: rs137852986
rs137852986
BRIP1
CUI: C4016951
Disease: BREAST CANCER, EARLY-ONSET
BREAST CANCER, EARLY-ONSET 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555616176
rs1555616176
BRIP1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519365
rs1057519365
BRIP1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.700 GeneticVariation CLINVAR The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 27165003

2016
dbSNP: rs149364097
rs149364097
BRIP1
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs137852986
rs137852986
BRIP1
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		A 0.700 CausalMutation CLINVAR

dbSNP: rs137852986
rs137852986
BRIP1
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423

2005
dbSNP: rs137852986
rs137852986
BRIP1
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424

2005
dbSNP: rs137852986
rs137852986
BRIP1
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients. 26968956

2016
dbSNP: rs786202760
rs786202760
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.800 CausalMutation CLINVAR

dbSNP: rs786202760
rs786202760
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		G 0.800 GeneticVariation CLINVAR

dbSNP: rs878855151
rs878855151
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs878855145
rs878855145
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		C 0.700 CausalMutation CLINVAR

dbSNP: rs878855143
rs878855143
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878855143
rs878855143
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs878855140
rs878855140
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		GGTTGTTGAAATATCAATTTGATATA 0.700 CausalMutation CLINVAR

dbSNP: rs878855134
rs878855134
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		AAG 0.700 CausalMutation CLINVAR

dbSNP: rs876660769
rs876660769
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		C 0.700 CausalMutation CLINVAR

dbSNP: rs876660613
rs876660613
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.700 CausalMutation CLINVAR

dbSNP: rs876660203
rs876660203
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.700 GeneticVariation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575

2011
dbSNP: rs876660203
rs876660203
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.700 GeneticVariation CLINVAR The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423

2005
dbSNP: rs876660203
rs876660203
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.700 GeneticVariation CLINVAR Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. 17033622

2006
dbSNP: rs876659707
rs876659707
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575

2011