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rs80357614

From SNPedia

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


Make rs80357614(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092805
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357614
ebirs80357614
HLIrs80357614
Exacrs80357614
Varsomers80357614
Maprs80357614
PheGenIrs80357614
hapmaprs80357614
1000 genomesrs80357614
hgdprs80357614
ensemblrs80357614
gopubmedrs80357614
geneviewrs80357614
scholarrs80357614
googlers80357614
pharmgkbrs80357614
gwascentralrs80357614
openSNPrs80357614
23andMers80357614
23andMe allrs80357614
SNP Nexus

SNPshotrs80357614
SNPdbers80357614
MSV3drs80357614
GWAS Ctlgrs80357614
Max Magnitude6
rs80357614, also known as 2845delA, c.2726_2726delA and p.Asn909Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357614(;)
Alt rs80357614(;)
Reference rs80357614(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.41244822delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047946.2, RCV000111926.1,