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rs80358063

From SNPedia

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


Make rs80358063(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43076487
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358063
dbSNP (classic)rs80358063
ClinGenrs80358063
ebirs80358063
HLIrs80358063
Exacrs80358063
Gnomadrs80358063
Varsomers80358063
LitVarrs80358063
Maprs80358063
PheGenIrs80358063
Biobankrs80358063
1000 genomesrs80358063
hgdprs80358063
ensemblrs80358063
geneviewrs80358063
scholarrs80358063
googlers80358063
pharmgkbrs80358063
gwascentralrs80358063
openSNPrs80358063
23andMers80358063
SNPshotrs80358063
SNPdbers80358063
MSV3drs80358063
GWAS Ctlgrs80358063
Max Magnitude6
ClinVar
Risk rs80358063(A;A) rs80358063(T;T)
Alt rs80358063(A;A) rs80358063(T;T)
Reference Rs80358063(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41228504C>A; NC_000017.10:g.41228504C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000258231.1, RCV000031177.5, RCV000048572.3,