RAD51, RAD51 recombinase, 5888

N. diseases: 363; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917739
rs121917739
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.710 GeneticVariation UNIPROT Tumor-associated mutations in a conserved structural motif alter physical and biochemical properties of human RAD51 recombinase. 25539919 2015
dbSNP: rs121917739
rs121917739
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.710 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376 2014
dbSNP: rs121917739
rs121917739
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.710 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402 2014
dbSNP: rs121917739
rs121917739
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.710 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131 2008
dbSNP: rs121917739
rs121917739
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.710 GeneticVariation BEFREE These differences in the DNA-binding properties between HsRad51(R150Q) and HsRad51 may be important to account for the tumorigenesis in breast cancer patients with the HsRad51(R150Q) mutation. 17666788 2007
dbSNP: rs121917739
rs121917739
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.710 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274 2007
dbSNP: rs121917739
rs121917739
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.710 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs121917739
rs121917739
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.710 GeneticVariation UNIPROT Identification of Rad51 alteration in patients with bilateral breast cancer. 10807537 2000
dbSNP: rs11855560
rs11855560
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0003469
Disease:
Anxiety Disorders
T 0.700 GeneticVariation GWASCAT Genetic Variants Associated With Anxiety and Stress-Related Disorders: A Genome-Wide Association Study and Mouse-Model Study. 31116379 2019
dbSNP: rs2928140
rs2928140
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0205682
Disease:
Waist-Hip Ratio
C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs1057519413
rs1057519413
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination. 26253028 2015
dbSNP: rs1057519413
rs1057519413
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations. 25813273 2015
dbSNP: rs1057519413
rs1057519413
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases. 24808016 2014
dbSNP: rs199925463
rs199925463
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C3281089
Disease:
MIRROR MOVEMENTS 2
T 0.700 CausalMutation CLINVAR A novel DCC mutation and genetic heterogeneity in congenital mirror movements. 21242494 2011
dbSNP: rs34091239
rs34091239
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C3281089
Disease:
MIRROR MOVEMENTS 2
CA 0.700 CausalMutation CLINVAR A novel DCC mutation and genetic heterogeneity in congenital mirror movements. 21242494 2011
dbSNP: rs1555429623
rs1555429623
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C3281089
Disease:
MIRROR MOVEMENTS 2
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555429629
rs1555429629
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C4551570
Disease:
2-3 toe syndactyly
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555429629
rs1555429629
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0003466
Disease:
Anus, Imperforate
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555429629
rs1555429629
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0079924
Disease:
Oligohydramnios
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555429629
rs1555429629
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0557874
Disease:
Global developmental delay
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555429629
rs1555429629
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C1862102
Disease:
BRACHYDACTYLY, TYPE E1
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555429629
rs1555429629
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0423112
Disease:
Short palpebral fissure
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555429629
rs1555429629
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0221263
Disease:
Cafe-au-Lait Spots
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555429629
rs1555429629
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C1837404
Disease:
High, narrow palate
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555429629
rs1555429629
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C4284093
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP R
A 0.700 GeneticVariation CLINVAR