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rs80357549

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357549(-;-)
Make rs80357549(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092840
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357549
ebirs80357549
HLIrs80357549
Exacrs80357549
Varsomers80357549
Maprs80357549
PheGenIrs80357549
hapmaprs80357549
1000 genomesrs80357549
hgdprs80357549
ensemblrs80357549
gopubmedrs80357549
geneviewrs80357549
scholarrs80357549
googlers80357549
pharmgkbrs80357549
gwascentralrs80357549
openSNPrs80357549
23andMers80357549
23andMe allrs80357549
SNP Nexus

SNPshotrs80357549
SNPdbers80357549
MSV3drs80357549
GWAS Ctlgrs80357549
Max Magnitude6
rs80357549, also known as 2809insA, c.2690_2691insA and p.Pro897?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357549(A;A)
Alt rs80357549(A;A)
Reference rs80357549(;)
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.41244854dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047935.2, RCV000111919.1,