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rs273899687

From SNPedia

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


Make rs273899687(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092845
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273899687
ebirs273899687
HLIrs273899687
Exacrs273899687
Varsomers273899687
Maprs273899687
PheGenIrs273899687
hapmaprs273899687
1000 genomesrs273899687
hgdprs273899687
ensemblrs273899687
gopubmedrs273899687
geneviewrs273899687
scholarrs273899687
googlers273899687
pharmgkbrs273899687
gwascentralrs273899687
openSNPrs273899687
23andMers273899687
23andMe allrs273899687
SNP Nexus

SNPshotrs273899687
SNPdbers273899687
MSV3drs273899687
GWAS Ctlgrs273899687
Max Magnitude6
rs273899687, also known as 2805delA, c.2686_2686delA and p.Ser896Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273899687(;)
Alt rs273899687(;)
Reference rs273899687(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244862delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111918.1,