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rs80357167

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357167(A;A)
Make rs80357167(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094066
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357167
dbSNP (classic)rs80357167
ClinGenrs80357167
ebirs80357167
HLIrs80357167
Exacrs80357167
Gnomadrs80357167
Varsomers80357167
LitVarrs80357167
Maprs80357167
PheGenIrs80357167
Biobankrs80357167
1000 genomesrs80357167
hgdprs80357167
ensemblrs80357167
geneviewrs80357167
scholarrs80357167
googlers80357167
pharmgkbrs80357167
gwascentralrs80357167
openSNPrs80357167
23andMers80357167
SNPshotrs80357167
SNPdbers80357167
MSV3drs80357167
GWAS Ctlgrs80357167
Max Magnitude6
ClinVar
Risk rs80357167(A;A) rs80357167(T;T)
Alt rs80357167(A;A) rs80357167(T;T)
Reference Rs80357167(G;G)
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.41246083C>A; NC_000017.10:g.41246083C>T
CLNSRC ClinVar
CLNACC RCV000047486.2, RCV000256732.2, RCV000047485.2, RCV000111625.1,