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rs80357446

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357446(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115729
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357446
dbSNP (classic)rs80357446
ClinGenrs80357446
ebirs80357446
HLIrs80357446
Exacrs80357446
Gnomadrs80357446
Varsomers80357446
LitVarrs80357446
Maprs80357446
PheGenIrs80357446
Biobankrs80357446
1000 genomesrs80357446
hgdprs80357446
ensemblrs80357446
geneviewrs80357446
scholarrs80357446
googlers80357446
pharmgkbrs80357446
gwascentralrs80357446
openSNPrs80357446
23andMers80357446
SNPshotrs80357446
SNPdbers80357446
MSV3drs80357446
GWAS Ctlgrs80357446
Max Magnitude6

23andMe name: i5010334

ClinVar
Risk rs80357446(A;A) rs80357446(T;T)
Alt rs80357446(A;A) rs80357446(T;T)
Reference Rs80357446(G;G)
Significance Other
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not specified not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not specified not provided
Reversed 1
HGVS NC_000017.10:g.41267746C>A; NC_000017.10:g.41267746C>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000047418.2, RCV000077487.6, RCV000166901.1, RCV000239310.1, RCV000434130.1, RCV000047417.4, RCV000077486.5, RCV000235119.1,