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rs80357846

From SNPedia

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


Make rs80357846(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092526
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357846
ebirs80357846
HLIrs80357846
Exacrs80357846
Varsomers80357846
Maprs80357846
PheGenIrs80357846
hapmaprs80357846
1000 genomesrs80357846
hgdprs80357846
ensemblrs80357846
gopubmedrs80357846
geneviewrs80357846
scholarrs80357846
googlers80357846
pharmgkbrs80357846
gwascentralrs80357846
openSNPrs80357846
23andMers80357846
23andMe allrs80357846
SNP Nexus

SNPshotrs80357846
SNPdbers80357846
MSV3drs80357846
GWAS Ctlgrs80357846
Max Magnitude6
rs80357846, also known as 3124delA, c.3005_3005delA and p.Asn1002Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357846(;)
Alt rs80357846(;)
Reference rs80357846(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244543delT
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000019238.11, RCV000048039.3, RCV000159912.2, RCV000163096.1,