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rs80357863

From SNPedia

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


Make rs80357863(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093018
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357863
ebirs80357863
HLIrs80357863
Exacrs80357863
Varsomers80357863
Maprs80357863
PheGenIrs80357863
hapmaprs80357863
1000 genomesrs80357863
hgdprs80357863
ensemblrs80357863
gopubmedrs80357863
geneviewrs80357863
scholarrs80357863
googlers80357863
pharmgkbrs80357863
gwascentralrs80357863
openSNPrs80357863
23andMers80357863
23andMe allrs80357863
SNP Nexus

SNPshotrs80357863
SNPdbers80357863
MSV3drs80357863
GWAS Ctlgrs80357863
Max Magnitude6
rs80357863, also known as 2632delA, c.2513_2513delA and p.Asn838Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357863(;)
Alt rs80357863(;)
Reference rs80357863(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.41245035delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047863.2, RCV000111882.1,