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rs80357505

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357505(-;-)
Make rs80357505(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094091
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357505
ebirs80357505
HLIrs80357505
Exacrs80357505
Varsomers80357505
Maprs80357505
PheGenIrs80357505
hapmaprs80357505
1000 genomesrs80357505
hgdprs80357505
ensemblrs80357505
gopubmedrs80357505
geneviewrs80357505
scholarrs80357505
googlers80357505
pharmgkbrs80357505
gwascentralrs80357505
openSNPrs80357505
23andMers80357505
23andMe allrs80357505
SNP Nexus

SNPshotrs80357505
SNPdbers80357505
MSV3drs80357505
GWAS Ctlgrs80357505
Max Magnitude6
rs80357505, also known as 1558insA, c.1439_1440insA and p.Asn480?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357505(A;A)
Alt rs80357505(A;A)
Reference rs80357505(;)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41246109dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047474.3, RCV000083022.3, RCV000129465.2,