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rs80357737

From SNPedia

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


Make rs80357737(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091446
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357737
ebirs80357737
HLIrs80357737
Exacrs80357737
Varsomers80357737
Maprs80357737
PheGenIrs80357737
hapmaprs80357737
1000 genomesrs80357737
hgdprs80357737
ensemblrs80357737
gopubmedrs80357737
geneviewrs80357737
scholarrs80357737
googlers80357737
pharmgkbrs80357737
gwascentralrs80357737
openSNPrs80357737
23andMers80357737
23andMe allrs80357737
SNP Nexus

SNPshotrs80357737
SNPdbers80357737
MSV3drs80357737
GWAS Ctlgrs80357737
Max Magnitude6
rs80357737, also known as 4204delA, c.4085_4085delA and p.Asp1362Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357737(;)
Alt rs80357737(;)
Reference rs80357737(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.41243463delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048438.2, RCV000112245.1,