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rs80357757

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357757(GA;GA)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045790
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357757
dbSNP (classic)rs80357757
ClinGenrs80357757
ebirs80357757
HLIrs80357757
Exacrs80357757
Gnomadrs80357757
Varsomers80357757
LitVarrs80357757
Maprs80357757
PheGenIrs80357757
Biobankrs80357757
1000 genomesrs80357757
hgdprs80357757
ensemblrs80357757
geneviewrs80357757
scholarrs80357757
googlers80357757
pharmgkbrs80357757
gwascentralrs80357757
openSNPrs80357757
23andMers80357757
SNPshotrs80357757
SNPdbers80357757
MSV3drs80357757
GWAS Ctlgrs80357757
Max Magnitude6
ClinVar
Risk rs80357757(GA;GA)
Alt rs80357757(GA;GA)
Reference Rs80357757(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41197808_41197809dupTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000083073.5,