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rs587780240

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 Ovarian cancer susceptibility
Make rs587780240(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position61715948
GeneBRIP1
is asnp
is mentioned by
dbSNPrs587780240
dbSNP (classic)rs587780240
ClinGenrs587780240
ebirs587780240
HLIrs587780240
Exacrs587780240
Gnomadrs587780240
Varsomers587780240
LitVarrs587780240
Maprs587780240
PheGenIrs587780240
Biobankrs587780240
1000 genomesrs587780240
hgdprs587780240
ensemblrs587780240
geneviewrs587780240
scholarrs587780240
googlers587780240
pharmgkbrs587780240
gwascentralrs587780240
openSNPrs587780240
23andMers587780240
SNPshotrs587780240
SNPdbers587780240
MSV3drs587780240
GWAS Ctlgrs587780240
Max Magnitude6

Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312OA-icon.png]

ClinVar
Risk rs587780240(T;T)
Alt rs587780240(T;T)
Reference Rs587780240(-;-)
Significance Probable-Pathogenic
Disease Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia not provided
Variation info
Gene BRIP1
CLNDBN Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia, complementation group J not provided
Reversed 1
HGVS NC_000017.10:g.59793310dupA
CLNSRC
CLNACC RCV000116143.6, RCV000205157.2, RCV000258968.2,