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rs587782879

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs587782879(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43082511
GeneBRCA1
is asnp
is mentioned by
dbSNPrs587782879
dbSNP (old)rs587782879
ClinGenrs587782879
ebirs587782879
HLIrs587782879
Exacrs587782879
Gnomadrs587782879
Varsomers587782879
Maprs587782879
PheGenIrs587782879
Biobankrs587782879
1000 genomesrs587782879
hgdprs587782879
ensemblrs587782879
gopubmedrs587782879
geneviewrs587782879
scholarrs587782879
googlers587782879
pharmgkbrs587782879
gwascentralrs587782879
openSNPrs587782879
23andMers587782879
23andMe allrs587782879
SNP Nexus

SNPshotrs587782879
SNPdbers587782879
MSV3drs587782879
GWAS Ctlgrs587782879
Max Magnitude6

BRCA1, c.4250delT (p.Val1417Glyfs)

ClinVar
Risk rs587782879(-;-)
Alt rs587782879(-;-)
Reference Rs587782879(T;T)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41234528delA
CLNSRC
CLNACC RCV000132513.2, RCV000241140.1,