Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149364097
rs149364097
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		G 0.700 GeneticVariation CLINVAR Mutational analysis of FANCJ helicase. 27107905

2016
dbSNP: rs149364097
rs149364097
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		G 0.700 GeneticVariation CLINVAR Integrated analysis of germline and somatic variants in ovarian cancer. 24448499

2014
dbSNP: rs149364097
rs149364097
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		G 0.700 GeneticVariation CLINVAR Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes. 20639400

2010
dbSNP: rs149364097
rs149364097
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		G 0.700 GeneticVariation CLINVAR The DNA repair helicases XPD and FancJ have essential iron-sulfur domains. 16973432

2006
dbSNP: rs149364097
rs149364097
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		G 0.700 GeneticVariation CLINVAR The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424

2005
dbSNP: rs149364097
rs149364097
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		G 0.700 CausalMutation CLINVAR