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rs80357631

From SNPedia

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


Make rs80357631(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093055
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357631
ebirs80357631
HLIrs80357631
Exacrs80357631
Varsomers80357631
Maprs80357631
PheGenIrs80357631
hapmaprs80357631
1000 genomesrs80357631
hgdprs80357631
ensemblrs80357631
gopubmedrs80357631
geneviewrs80357631
scholarrs80357631
googlers80357631
pharmgkbrs80357631
gwascentralrs80357631
openSNPrs80357631
23andMers80357631
23andMe allrs80357631
SNP Nexus

SNPshotrs80357631
SNPdbers80357631
MSV3drs80357631
GWAS Ctlgrs80357631
Max Magnitude6
rs80357631, also known as 2595delA, c.2476_2476delA and p.Thr826Glnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357631(;)
Alt rs80357631(;)
Reference rs80357631(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.41245072delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047851.2, RCV000111872.1,