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rs273900721

From SNPedia

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


Make rs273900721(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091493
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273900721
ebirs273900721
HLIrs273900721
Exacrs273900721
Varsomers273900721
Maprs273900721
PheGenIrs273900721
hapmaprs273900721
1000 genomesrs273900721
hgdprs273900721
ensemblrs273900721
gopubmedrs273900721
geneviewrs273900721
scholarrs273900721
googlers273900721
pharmgkbrs273900721
gwascentralrs273900721
openSNPrs273900721
23andMers273900721
23andMe allrs273900721
SNP Nexus

SNPshotrs273900721
SNPdbers273900721
MSV3drs273900721
GWAS Ctlgrs273900721
Max Magnitude6
rs273900721, also known as E1346X, c.4037_4038delAA and p.Glu1346=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273900721(;)
Alt rs273900721(;)
Reference rs273900721(AA;AA)
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.41243510_41243511delTT
CLNSRC ClinVar
CLNACC RCV000048416.2, RCV000112229.1,