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rs587781423

From SNPedia

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


Make rs587781423(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43092910
GeneBRCA1
is asnp
is mentioned by
dbSNPrs587781423
dbSNP (classic)rs587781423
ClinGenrs587781423
ebirs587781423
HLIrs587781423
Exacrs587781423
Gnomadrs587781423
Varsomers587781423
LitVarrs587781423
Maprs587781423
PheGenIrs587781423
Biobankrs587781423
1000 genomesrs587781423
hgdprs587781423
ensemblrs587781423
geneviewrs587781423
scholarrs587781423
googlers587781423
pharmgkbrs587781423
gwascentralrs587781423
openSNPrs587781423
23andMers587781423
SNPshotrs587781423
SNPdbers587781423
MSV3drs587781423
GWAS Ctlgrs587781423
Max Magnitude6

BRCA1, c.2621delA (p.Asn874Ilefs)

ClinVar
Risk rs587781423(-;-)
Alt rs587781423(-;-)
Reference Rs587781423(A;A)
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.41244927delT
CLNSRC
CLNACC RCV000129302.2, RCV000241057.1,