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rs80357703

From SNPedia

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


Make rs80357703(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092769
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357703
ebirs80357703
HLIrs80357703
Exacrs80357703
Varsomers80357703
Maprs80357703
PheGenIrs80357703
hapmaprs80357703
1000 genomesrs80357703
hgdprs80357703
ensemblrs80357703
gopubmedrs80357703
geneviewrs80357703
scholarrs80357703
googlers80357703
pharmgkbrs80357703
gwascentralrs80357703
openSNPrs80357703
23andMers80357703
23andMe allrs80357703
SNP Nexus

SNPshotrs80357703
SNPdbers80357703
MSV3drs80357703
GWAS Ctlgrs80357703
Max Magnitude6
rs80357703, also known as 2881delA, c.2762_2762delA and p.Gln921Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357703(;)
Alt rs80357703(;)
Reference rs80357703(A;A)
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.41244786delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047962.2, RCV000111934.1, RCV000165693.1,