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rs587780802

From SNPedia

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


Make rs587780802(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43091657
GeneBRCA1
is asnp
is mentioned by
dbSNPrs587780802
dbSNP (classic)rs587780802
ClinGenrs587780802
ebirs587780802
HLIrs587780802
Exacrs587780802
Gnomadrs587780802
Varsomers587780802
LitVarrs587780802
Maprs587780802
PheGenIrs587780802
Biobankrs587780802
1000 genomesrs587780802
hgdprs587780802
ensemblrs587780802
geneviewrs587780802
scholarrs587780802
googlers587780802
pharmgkbrs587780802
gwascentralrs587780802
openSNPrs587780802
23andMers587780802
SNPshotrs587780802
SNPdbers587780802
MSV3drs587780802
GWAS Ctlgrs587780802
Max Magnitude6

BRCA1, c.3874delT (p.Ser1292Leufs)

ClinVar
Risk rs587780802(-;-)
Alt rs587780802(-;-)
Reference Rs587780802(T;T)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243674delA
CLNSRC
CLNACC RCV000123275.1, RCV000129410.2, RCV000241500.3,