rs4986765

Homo sapiens
T>C
BRIP1 : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0281 (34113/121308,ExAC)
T==0279 (8360/29928,GnomAD)
T==0220 (6421/29118,TOPMED)
C=0265 (3456/13006,GO-ESP)
T==0185 (926/5008,1000G)
T==0325 (1253/3854,ALSPAC)
T==0341 (1266/3708,TWINSUK)
chr17:61686104 (GRCh38.p7) (17q23.2)
AD
GWASdb2
5   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.61686104T>C
GRCh37.p13 chr 17NC_000017.10:g.59763465T>C
BRIP1 RefSeqGene LRG_300

Gene: BRIP1, BRCA1 interacting protein C-terminal helicase 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
BRIP1 transcriptNM_032043.2:c.263...NM_032043.2:c.2637A>GE [GAA]> E [GAG]Coding Sequence Variant
Fanconi anemia group J proteinNP_114432.2:p.Glu...NP_114432.2:p.Glu879=E [Glu]> E [Glu]Synonymous Variant
BRIP1 transcript variant X11XM_011525340.2:c.N/A3 Prime UTR Variant
BRIP1 transcript variant X10XM_011525339.2:c.N/AGenic Downstream Transcript Variant
BRIP1 transcript variant X12XM_011525341.2:c.N/AGenic Downstream Transcript Variant
BRIP1 transcript variant X1XM_011525332.2:c....XM_011525332.2:c.2697A>GE [GAA]> E [GAG]Coding Sequence Variant
Fanconi anemia group J protein isoform X1XP_011523634.1:p....XP_011523634.1:p.Glu899=E [Glu]> E [Glu]Synonymous Variant
BRIP1 transcript variant X2XM_011525333.2:c....XM_011525333.2:c.2697A>GE [GAA]> E [GAG]Coding Sequence Variant
Fanconi anemia group J protein isoform X1XP_011523635.1:p....XP_011523635.1:p.Glu899=E [Glu]> E [Glu]Synonymous Variant
BRIP1 transcript variant X3XM_011525334.2:c....XM_011525334.2:c.2697A>GE [GAA]> E [GAG]Coding Sequence Variant
Fanconi anemia group J protein isoform X1XP_011523636.1:p....XP_011523636.1:p.Glu899=E [Glu]> E [Glu]Synonymous Variant
BRIP1 transcript variant X4XM_011525335.2:c....XM_011525335.2:c.2637A>GE [GAA]> E [GAG]Coding Sequence Variant
Fanconi anemia group J protein isoform X2XP_011523637.1:p....XP_011523637.1:p.Glu879=E [Glu]> E [Glu]Synonymous Variant
BRIP1 transcript variant X5XM_011525336.2:c....XM_011525336.2:c.2577A>GE [GAA]> E [GAG]Coding Sequence Variant
Fanconi anemia group J protein isoform X3XP_011523638.1:p....XP_011523638.1:p.Glu859=E [Glu]> E [Glu]Synonymous Variant
BRIP1 transcript variant X6XM_011525337.2:c....XM_011525337.2:c.2496A>GE [GAA]> E [GAG]Coding Sequence Variant
Fanconi anemia group J protein isoform X4XP_011523639.1:p....XP_011523639.1:p.Glu832=E [Glu]> E [Glu]Synonymous Variant
BRIP1 transcript variant X7XM_011525338.2:c....XM_011525338.2:c.2214A>GE [GAA]> E [GAG]Coding Sequence Variant
Fanconi anemia group J protein isoform X5XP_011523640.1:p....XP_011523640.1:p.Glu738=E [Glu]> E [Glu]Synonymous Variant
BRIP1 transcript variant X8XM_017025200.1:c....XM_017025200.1:c.2154A>GE [GAA]> E [GAG]Coding Sequence Variant
Fanconi anemia group J protein isoform X6XP_016880689.1:p....XP_016880689.1:p.Glu718=E [Glu]> E [Glu]Synonymous Variant
BRIP1 transcript variant X9XM_017025201.1:c....XM_017025201.1:c.2154A>GE [GAA]> E [GAG]Coding Sequence Variant
Fanconi anemia group J protein isoform X7XP_016880690.1:p....XP_016880690.1:p.Glu718=E [Glu]> E [Glu]Synonymous Variant
BRIP1 transcript variant X13XM_017025202.1:c....XM_017025202.1:c.783A>GE [GAA]> E [GAG]Coding Sequence Variant
Fanconi anemia group J protein isoform X11XP_016880691.1:p....XP_016880691.1:p.Glu261=E [Glu]> E [Glu]Synonymous Variant
BRIP1 transcript variant X14XM_017025203.1:c....XM_017025203.1:c.783A>GE [GAA]> E [GAG]Coding Sequence Variant
Fanconi anemia group J protein isoform X11XP_016880692.1:p....XP_016880692.1:p.Glu261=E [Glu]> E [Glu]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.059C=0.941
1000GenomesAmericanSub694T=0.170C=0.830
1000GenomesEast AsianSub1008T=0.087C=0.913
1000GenomesEuropeSub1006T=0.347C=0.653
1000GenomesGlobalStudy-wide5008T=0.185C=0.815
1000GenomesSouth AsianSub978T=0.300C=0.700
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.325C=0.675
The Exome Aggregation ConsortiumAmericanSub21926T=0.110C=0.889
The Exome Aggregation ConsortiumAsianSub25160T=0.234C=0.765
The Exome Aggregation ConsortiumEuropeSub73316T=0.348C=0.651
The Exome Aggregation ConsortiumGlobalStudy-wide121308T=0.281C=0.718
The Exome Aggregation ConsortiumOtherSub906T=0.280C=0.720
The Genome Aggregation DatabaseAfricanSub8726T=0.093C=0.907
The Genome Aggregation DatabaseAmericanSub838T=0.150C=0.850
The Genome Aggregation DatabaseEast AsianSub1616T=0.119C=0.881
The Genome Aggregation DatabaseEuropeSub18446T=0.387C=0.612
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.279C=0.720
The Genome Aggregation DatabaseOtherSub302T=0.250C=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.220C=0.779
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.341C=0.659
PMID Title Author Journal
19276285Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.Sehl MEClin Cancer Res
17342202Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer.Song HPLoS One
19935797Absence of truncating BRIP1 mutations in chromosome 17q-linked hereditary prostate cancer families.Ray AMBr J Cancer
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet
25741868Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Richards SGenet Med

P-Value

SNP ID p-value Traits Study
rs49867650.0004alcohol consumption (maxi-drinks)24277619

eQTL of rs4986765 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs4986765 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr175972425359724321E070-39144
chr175972450659724705E070-38760
chr175977156259771715E0708097