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rs587782251

From SNPedia

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


Make rs587782251(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43094043
GeneBRCA1
is asnp
is mentioned by
dbSNPrs587782251
dbSNP (classic)rs587782251
ClinGenrs587782251
ebirs587782251
HLIrs587782251
Exacrs587782251
Gnomadrs587782251
Varsomers587782251
LitVarrs587782251
Maprs587782251
PheGenIrs587782251
Biobankrs587782251
1000 genomesrs587782251
hgdprs587782251
ensemblrs587782251
geneviewrs587782251
scholarrs587782251
googlers587782251
pharmgkbrs587782251
gwascentralrs587782251
openSNPrs587782251
23andMers587782251
SNPshotrs587782251
SNPdbers587782251
MSV3drs587782251
GWAS Ctlgrs587782251
Max Magnitude6

BRCA1, c.1488delT (p.Leu498Serfs)

ClinVar
Risk rs587782251(-;-)
Alt rs587782251(-;-)
Reference Rs587782251(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.41246060delA
CLNSRC
CLNACC RCV000130960.3, RCV000240989.2,