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rs606231389

From SNPedia

Merged intors80357715
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs606231389(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43093374
GeneBRCA1
is asnp
is mentioned by
dbSNPrs606231389
dbSNP (classic)rs606231389
ClinGenrs606231389
ebirs606231389
HLIrs606231389
Exacrs606231389
Gnomadrs606231389
Varsomers606231389
LitVarrs606231389
Maprs606231389
PheGenIrs606231389
Biobankrs606231389
1000 genomesrs606231389
hgdprs606231389
ensemblrs606231389
geneviewrs606231389
scholarrs606231389
googlers606231389
pharmgkbrs606231389
gwascentralrs606231389
openSNPrs606231389
23andMers606231389
SNPshotrs606231389
SNPdbers606231389
MSV3drs606231389
GWAS Ctlgrs606231389
StatusMerged into rs80357715
Max Magnitude6
ClinVar
Risk rs606231389(A;A)
Alt rs606231389(A;A)
Reference Rs606231389(;)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245391dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047735.3, RCV000111778.3, RCV000210761.1,