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rs587782628

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs587782628(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43092938
GeneBRCA1
is asnp
is mentioned by
dbSNPrs587782628
dbSNP (classic)rs587782628
ClinGenrs587782628
ebirs587782628
HLIrs587782628
Exacrs587782628
Gnomadrs587782628
Varsomers587782628
LitVarrs587782628
Maprs587782628
PheGenIrs587782628
Biobankrs587782628
1000 genomesrs587782628
hgdprs587782628
ensemblrs587782628
geneviewrs587782628
scholarrs587782628
googlers587782628
pharmgkbrs587782628
gwascentralrs587782628
openSNPrs587782628
23andMers587782628
SNPshotrs587782628
SNPdbers587782628
MSV3drs587782628
GWAS Ctlgrs587782628
Max Magnitude6
ClinVar
Risk rs587782628(T;T)
Alt rs587782628(T;T)
Reference Rs587782628(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.41244955T>A
CLNSRC
CLNACC RCV000132013.2, RCV000241180.1,