Gene: BRIP1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517648
rs1057517648
BRIP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1437158047
rs1437158047
BRIP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs149364097
rs149364097
BRIP1
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
G 0.700 GeneticVariation CLINVAR Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. 21345144

2011
dbSNP: rs149364097
rs149364097
BRIP1
G 0.700 GeneticVariation CLINVAR The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424

2005
dbSNP: rs149364097
rs149364097
BRIP1
G 0.700 GeneticVariation CLINVAR The DNA repair helicases XPD and FancJ have essential iron-sulfur domains. 16973432

2006
dbSNP: rs149364097
rs149364097
BRIP1
G 0.700 GeneticVariation CLINVAR Novel function of the Fanconi anemia group J or RECQ1 helicase to disrupt protein-DNA complexes in a replication protein A-stimulated manner. 24895130

2014
dbSNP: rs149364097
rs149364097
BRIP1
G 0.700 GeneticVariation CLINVAR Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer. 26790966

2016
dbSNP: rs149364097
rs149364097
BRIP1
G 0.700 GeneticVariation CLINVAR Integrated analysis of germline and somatic variants in ovarian cancer. 24448499

2014
dbSNP: rs149364097
rs149364097
BRIP1
G 0.700 GeneticVariation CLINVAR Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability. 25583461

2015
dbSNP: rs149364097
rs149364097
BRIP1
G 0.700 GeneticVariation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014
dbSNP: rs149364097
rs149364097
BRIP1
G 0.700 GeneticVariation CLINVAR Mutational analysis of FANCJ helicase. 27107905

2016
dbSNP: rs1555572799
rs1555572799
BRIP1
GAG 0.700 GeneticVariation CLINVAR

dbSNP: rs1555574711
rs1555574711
BRIP1
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs1555590286
rs1555590286
BRIP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555601204
rs1555601204
BRIP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555603638
rs1555603638
BRIP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555607022
rs1555607022
BRIP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555607628
rs1555607628
BRIP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555609402
rs1555609402
BRIP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555617934
rs1555617934
BRIP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555618738
rs1555618738
BRIP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1567729445
rs1567729445
BRIP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1567755539
rs1567755539
BRIP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1567756032
rs1567756032
BRIP1
T 0.700 GeneticVariation CLINVAR