Disease: Fanconi Anemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients. 26968956 2016
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424 2005
dbSNP: rs137852986
rs137852986
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423 2005
dbSNP: rs761278503
rs761278503
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0015625
Disease:
Fanconi Anemia 		0.010 GeneticVariation BEFREE Three of the amino acid changes, namely Thr561Met, Cys625Ser and particularly Ser1088Phe, which has been previously reported to be associated with FA, are predicted to be damaging by the SIFT and PolyPhen softwares. cDNA amplification revealed significant expression of 4 alternative splicing events (insertion of an intronic portion of intron 10, and the skipping of exons 11, 30 and 31). 23021409 2013