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rs80357531

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357531(-;-)
Make rs80357531(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091944
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357531
ebirs80357531
HLIrs80357531
Exacrs80357531
Varsomers80357531
Maprs80357531
PheGenIrs80357531
hapmaprs80357531
1000 genomesrs80357531
hgdprs80357531
ensemblrs80357531
gopubmedrs80357531
geneviewrs80357531
scholarrs80357531
googlers80357531
pharmgkbrs80357531
gwascentralrs80357531
openSNPrs80357531
23andMers80357531
23andMe allrs80357531
SNP Nexus

SNPshotrs80357531
SNPdbers80357531
MSV3drs80357531
GWAS Ctlgrs80357531
Max Magnitude6
rs80357531, also known as 3705insA, c.3586_3587insA and p.Thr1196?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357531(A;A)
Alt rs80357531(A;A)
Reference Rs80357531(;)
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.41243962dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048240.2, RCV000112125.3,