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rs80357950

From SNPedia

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


Make rs80357950(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104246
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357950
ebirs80357950
HLIrs80357950
Exacrs80357950
Varsomers80357950
Maprs80357950
PheGenIrs80357950
hapmaprs80357950
1000 genomesrs80357950
hgdprs80357950
ensemblrs80357950
gopubmedrs80357950
geneviewrs80357950
scholarrs80357950
googlers80357950
pharmgkbrs80357950
gwascentralrs80357950
openSNPrs80357950
23andMers80357950
23andMe allrs80357950
SNP Nexus

SNPshotrs80357950
SNPdbers80357950
MSV3drs80357950
GWAS Ctlgrs80357950
Max Magnitude6
rs80357950, also known as 436delA, c.317_317delA and p.Asn106Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357950(;)
Alt rs80357950(;)
Reference rs80357950(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.41256263delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048094.2, RCV000112304.1,