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rs80357463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 Normal


Make rs80357463(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43051098
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357463
dbSNP (classic)rs80357463
ClinGenrs80357463
ebirs80357463
HLIrs80357463
Exacrs80357463
Gnomadrs80357463
Varsomers80357463
LitVarrs80357463
Maprs80357463
PheGenIrs80357463
Biobankrs80357463
1000 genomesrs80357463
hgdprs80357463
ensemblrs80357463
geneviewrs80357463
scholarrs80357463
googlers80357463
pharmgkbrs80357463
gwascentralrs80357463
openSNPrs80357463
23andMers80357463
SNPshotrs80357463
SNPdbers80357463
MSV3drs80357463
GWAS Ctlgrs80357463
Max Magnitude6

23andMe name: i5010039

ClinVar
Risk rs80357463(A;A) rs80357463(G;G)
Alt rs80357463(A;A) rs80357463(G;G)
Reference Rs80357463(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41203115A>C; NC_000017.10:g.41203115A>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein)
CLNACC RCV000031237.6, RCV000048915.3, RCV000218342.1, RCV000258372.1,