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rs80357773

From SNPedia

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


Make rs80357773(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093451
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357773
ebirs80357773
HLIrs80357773
Exacrs80357773
Varsomers80357773
Maprs80357773
PheGenIrs80357773
hapmaprs80357773
1000 genomesrs80357773
hgdprs80357773
ensemblrs80357773
gopubmedrs80357773
geneviewrs80357773
scholarrs80357773
googlers80357773
pharmgkbrs80357773
gwascentralrs80357773
openSNPrs80357773
23andMers80357773
23andMe allrs80357773
SNP Nexus

SNPshotrs80357773
SNPdbers80357773
MSV3drs80357773
GWAS Ctlgrs80357773
Max Magnitude6
rs80357773, also known as 2198delCA, c.2079_2080delCA and p.Asp693_Ser694GluArgfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357773(;)
Alt rs80357773(;)
Reference rs80357773(CA;CA)
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.41245468_41245469delTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047704.2, RCV000111762.1,