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rs80357685

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357685(-;-)
Make rs80357685(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092804
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357685
ebirs80357685
HLIrs80357685
Exacrs80357685
Varsomers80357685
Maprs80357685
PheGenIrs80357685
hapmaprs80357685
1000 genomesrs80357685
hgdprs80357685
ensemblrs80357685
gopubmedrs80357685
geneviewrs80357685
scholarrs80357685
googlers80357685
pharmgkbrs80357685
gwascentralrs80357685
openSNPrs80357685
23andMers80357685
23andMe allrs80357685
SNP Nexus

SNPshotrs80357685
SNPdbers80357685
MSV3drs80357685
GWAS Ctlgrs80357685
Max Magnitude6
rs80357685, also known as 2845insA, c.2726_2727insA and p.Asn909?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357685(A;A)
Alt rs80357685(A;A)
Reference rs80357685(;)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244822dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047947.5, RCV000111925.1,