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rs80357695

From SNPedia

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


Make rs80357695(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093141
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357695
ebirs80357695
HLIrs80357695
Exacrs80357695
Varsomers80357695
Maprs80357695
PheGenIrs80357695
hapmaprs80357695
1000 genomesrs80357695
hgdprs80357695
ensemblrs80357695
gopubmedrs80357695
geneviewrs80357695
scholarrs80357695
googlers80357695
pharmgkbrs80357695
gwascentralrs80357695
openSNPrs80357695
23andMers80357695
23andMe allrs80357695
SNP Nexus

SNPshotrs80357695
SNPdbers80357695
MSV3drs80357695
GWAS Ctlgrs80357695
Max Magnitude6
rs80357695, also known as 2508delGA, c.2389_2390delGA and p.Glu797Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357695(;)
Alt rs80357695(;)
Reference rs80357695(GA;GA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245158_41245159delTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047820.2, RCV000083182.3, RCV000162855.1,