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rs273899694

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs273899694(-;T)
Make rs273899694(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position43104865
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273899694
dbSNP (classic)rs273899694
ClinGenrs273899694
ebirs273899694
HLIrs273899694
Exacrs273899694
Gnomadrs273899694
Varsomers273899694
LitVarrs273899694
Maprs273899694
PheGenIrs273899694
Biobankrs273899694
1000 genomesrs273899694
hgdprs273899694
ensemblrs273899694
geneviewrs273899694
scholarrs273899694
googlers273899694
pharmgkbrs273899694
gwascentralrs273899694
openSNPrs273899694
23andMers273899694
SNPshotrs273899694
SNPdbers273899694
MSV3drs273899694
GWAS Ctlgrs273899694
Max Magnitude0

aka c.301+2dup; BRCA1 variant of uncertain significance according to ClinVar

ClinVar
Risk rs273899694(T;T)
Alt rs273899694(T;T)
Reference Rs273899694(-;-)
Significance Other
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41256883dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112241.1, RCV000467483.1,