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rs80357965

From SNPedia

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


Make rs80357965(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094722
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357965
ebirs80357965
HLIrs80357965
Exacrs80357965
Varsomers80357965
Maprs80357965
PheGenIrs80357965
hapmaprs80357965
1000 genomesrs80357965
hgdprs80357965
ensemblrs80357965
gopubmedrs80357965
geneviewrs80357965
scholarrs80357965
googlers80357965
pharmgkbrs80357965
gwascentralrs80357965
openSNPrs80357965
23andMers80357965
23andMe allrs80357965
SNP Nexus

SNPshotrs80357965
SNPdbers80357965
MSV3drs80357965
GWAS Ctlgrs80357965
Max Magnitude6
rs80357965, also known as 928delA, c.809_809delA and p.His270Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357965(;)
Alt rs80357965(;)
Reference rs80357965(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.41246739delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049147.2, RCV000112793.1,