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rs397508973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;AAGTATCCAT) 6 BRCA1 variant considered pathogenic for breast cancer
(-;GTATCCAT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508973(AAGTATCCAT;AAGTATCCAT)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093033
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508973
dbSNP (classic)rs397508973
ClinGenrs397508973
ebirs397508973
HLIrs397508973
Exacrs397508973
Gnomadrs397508973
Varsomers397508973
LitVarrs397508973
Maprs397508973
PheGenIrs397508973
Biobankrs397508973
1000 genomesrs397508973
hgdprs397508973
ensemblrs397508973
geneviewrs397508973
scholarrs397508973
googlers397508973
pharmgkbrs397508973
gwascentralrs397508973
openSNPrs397508973
23andMers397508973
SNPshotrs397508973
SNPdbers397508973
MSV3drs397508973
GWAS Ctlgrs397508973
Max Magnitude6
ClinVar
Risk rs397508973(AAGTATCCAT;AAGTATCCAT) rs397508973(GTATCCAT;GTATCCAT)
Alt rs397508973(AAGTATCCAT;AAGTATCCAT) rs397508973(GTATCCAT;GTATCCAT)
Reference Rs397508973(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast not provided
Reversed 1
HGVS NC_000017.10:g.41245051_41245058dupATGGATAC; NC_000017.10:g.41245051_41245060dupATGGATACTT
CLNSRC ClinVar
CLNACC RCV000257678.2, RCV000047861.2, RCV000256693.2, RCV000484003.1,