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rs273897662

From SNPedia

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


Make rs273897662(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106518
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273897662
ebirs273897662
HLIrs273897662
Exacrs273897662
Varsomers273897662
Maprs273897662
PheGenIrs273897662
hapmaprs273897662
1000 genomesrs273897662
hgdprs273897662
ensemblrs273897662
gopubmedrs273897662
geneviewrs273897662
scholarrs273897662
googlers273897662
pharmgkbrs273897662
gwascentralrs273897662
openSNPrs273897662
23andMers273897662
23andMe allrs273897662
SNP Nexus

SNPshotrs273897662
SNPdbers273897662
MSV3drs273897662
GWAS Ctlgrs273897662
Max Magnitude6
rs273897662, also known as 269delA, c.150_150delA and p.Lys50Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273897662(;)
Alt rs273897662(;)
Reference rs273897662(A;A)
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.41258535delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047504.2, RCV000111894.1,