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rs587782709

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs587782709(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43093475
GeneBRCA1
is asnp
is mentioned by
dbSNPrs587782709
dbSNP (classic)rs587782709
ClinGenrs587782709
ebirs587782709
HLIrs587782709
Exacrs587782709
Gnomadrs587782709
Varsomers587782709
LitVarrs587782709
Maprs587782709
PheGenIrs587782709
Biobankrs587782709
1000 genomesrs587782709
hgdprs587782709
ensemblrs587782709
geneviewrs587782709
scholarrs587782709
googlers587782709
pharmgkbrs587782709
gwascentralrs587782709
openSNPrs587782709
23andMers587782709
SNPshotrs587782709
SNPdbers587782709
MSV3drs587782709
GWAS Ctlgrs587782709
Max Magnitude6
ClinVar
Risk rs587782709(T;T)
Alt rs587782709(T;T)
Reference Rs587782709(G;G)
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.41245492C>A
CLNSRC
CLNACC RCV000132180.3, RCV000241207.1,