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rs606231391

From SNPedia

Merged intors273899699
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs606231391(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43092425
GeneBRCA1
is asnp
is mentioned by
dbSNPrs606231391
dbSNP (classic)rs606231391
ClinGenrs606231391
ebirs606231391
HLIrs606231391
Exacrs606231391
Gnomadrs606231391
Varsomers606231391
LitVarrs606231391
Maprs606231391
PheGenIrs606231391
Biobankrs606231391
1000 genomesrs606231391
hgdprs606231391
ensemblrs606231391
geneviewrs606231391
scholarrs606231391
googlers606231391
pharmgkbrs606231391
gwascentralrs606231391
openSNPrs606231391
23andMers606231391
SNPshotrs606231391
SNPdbers606231391
MSV3drs606231391
GWAS Ctlgrs606231391
StatusMerged into rs273899699
Max Magnitude6
ClinVar
Risk rs606231391(T;T)
Alt rs606231391(T;T)
Reference Rs606231391(;)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244440dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031089.6, RCV000048072.2, RCV000130035.2,