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rs80359873

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TGACCCGAGAGTGG) 6 BRCA1 variant considered pathogenic for breast cancer
(TGACCCGAGAGTGG;TGACCCGAGAGTGG) 0 common in clinvar


Make rs80359873(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43045759
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80359873
dbSNP (classic)rs80359873
ClinGenrs80359873
ebirs80359873
HLIrs80359873
Exacrs80359873
Gnomadrs80359873
Varsomers80359873
LitVarrs80359873
Maprs80359873
PheGenIrs80359873
Biobankrs80359873
1000 genomesrs80359873
hgdprs80359873
ensemblrs80359873
geneviewrs80359873
scholarrs80359873
googlers80359873
pharmgkbrs80359873
gwascentralrs80359873
openSNPrs80359873
23andMers80359873
SNPshotrs80359873
SNPdbers80359873
MSV3drs80359873
GWAS Ctlgrs80359873
Max Magnitude6
ClinVar
Risk rs80359873(-;-)
Alt rs80359873(-;-)
Reference Rs80359873(TGACCCGAGAGTGG;TGACCCGAGAGTGG)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41197776_41197789delCCACTCTCGGGTCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112682.2,