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rs273899706

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs273899706(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092114
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273899706
ebirs273899706
HLIrs273899706
Exacrs273899706
Varsomers273899706
Maprs273899706
PheGenIrs273899706
hapmaprs273899706
1000 genomesrs273899706
hgdprs273899706
ensemblrs273899706
gopubmedrs273899706
geneviewrs273899706
scholarrs273899706
googlers273899706
pharmgkbrs273899706
gwascentralrs273899706
openSNPrs273899706
23andMers273899706
23andMe allrs273899706
SNP Nexus

SNPshotrs273899706
SNPdbers273899706
MSV3drs273899706
GWAS Ctlgrs273899706
Max Magnitude6
rs273899706, also known as 3536delT, c.3417_3417delT and p.Ser1139Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273899706(;)
Alt rs273899706(;)
Reference rs273899706(T;T)
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.41244131delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048186.2, RCV000112091.1,