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rs80357504

From SNPedia

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


Make rs80357504(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091599
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357504
ebirs80357504
HLIrs80357504
Exacrs80357504
Varsomers80357504
Maprs80357504
PheGenIrs80357504
hapmaprs80357504
1000 genomesrs80357504
hgdprs80357504
ensemblrs80357504
gopubmedrs80357504
geneviewrs80357504
scholarrs80357504
googlers80357504
pharmgkbrs80357504
gwascentralrs80357504
openSNPrs80357504
23andMers80357504
23andMe allrs80357504
SNP Nexus

SNPshotrs80357504
SNPdbers80357504
MSV3drs80357504
GWAS Ctlgrs80357504
Max Magnitude6
rs80357504, also known as 4051delA, c.3932_3932delA and p.Asn1311Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357504(;)
Alt rs80357504(;)
Reference rs80357504(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.41243616delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048385.2, RCV000112212.1,