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rs80357648

From SNPedia

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


Make rs80357648(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094087
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357648
ebirs80357648
HLIrs80357648
Exacrs80357648
Varsomers80357648
Maprs80357648
PheGenIrs80357648
hapmaprs80357648
1000 genomesrs80357648
hgdprs80357648
ensemblrs80357648
gopubmedrs80357648
geneviewrs80357648
scholarrs80357648
googlers80357648
pharmgkbrs80357648
gwascentralrs80357648
openSNPrs80357648
23andMers80357648
23andMe allrs80357648
SNP Nexus

SNPshotrs80357648
SNPdbers80357648
MSV3drs80357648
GWAS Ctlgrs80357648
Max Magnitude6
rs80357648, also known as 1563delA, c.1444_1444delA and p.Ile482Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357648(;)
Alt rs80357648(;)
Reference rs80357648(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.41246104delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047477.2, RCV000111618.1,