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rs273899709

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AG) 6 BRCA1 variant considered pathogenic for breast cancer
(AG;AG) 0 common in clinvar
Make rs273899709(AG;T)
Make rs273899709(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091981
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273899709
dbSNP (classic)rs273899709
ClinGenrs273899709
ebirs273899709
HLIrs273899709
Exacrs273899709
Gnomadrs273899709
Varsomers273899709
LitVarrs273899709
Maprs273899709
PheGenIrs273899709
Biobankrs273899709
1000 genomesrs273899709
hgdprs273899709
ensemblrs273899709
geneviewrs273899709
scholarrs273899709
googlers273899709
pharmgkbrs273899709
gwascentralrs273899709
openSNPrs273899709
23andMers273899709
SNPshotrs273899709
SNPdbers273899709
MSV3drs273899709
GWAS Ctlgrs273899709
Max Magnitude6
ClinVar
Risk rs273899709(T;T)
Alt rs273899709(T;T)
Reference Rs273899709(AG;AG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243998_41243999delCTinsA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048231.2, RCV000112117.3,