Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357786

From SNPedia

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


Make rs80357786(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093232
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357786
ebirs80357786
HLIrs80357786
Exacrs80357786
Varsomers80357786
Maprs80357786
PheGenIrs80357786
hapmaprs80357786
1000 genomesrs80357786
hgdprs80357786
ensemblrs80357786
gopubmedrs80357786
geneviewrs80357786
scholarrs80357786
googlers80357786
pharmgkbrs80357786
gwascentralrs80357786
openSNPrs80357786
23andMers80357786
23andMe allrs80357786
SNP Nexus

SNPshotrs80357786
SNPdbers80357786
MSV3drs80357786
GWAS Ctlgrs80357786
Max Magnitude6
rs80357786, also known as 2418delA, c.2299_2299delA and p.Ser767Alafs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357786(;)
Alt rs80357786(;)
Reference rs80357786(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245249delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031043.4, RCV000047789.2, RCV000132306.2,