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rs397508960

From SNPedia

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


Make rs397508960(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093180
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508960
dbSNP (classic)rs397508960
ClinGenrs397508960
ebirs397508960
HLIrs397508960
Exacrs397508960
Gnomadrs397508960
Varsomers397508960
LitVarrs397508960
Maprs397508960
PheGenIrs397508960
Biobankrs397508960
1000 genomesrs397508960
hgdprs397508960
ensemblrs397508960
geneviewrs397508960
scholarrs397508960
googlers397508960
pharmgkbrs397508960
gwascentralrs397508960
openSNPrs397508960
23andMers397508960
SNPshotrs397508960
SNPdbers397508960
MSV3drs397508960
GWAS Ctlgrs397508960
Max Magnitude6
ClinVar
Risk rs397508960(-;-)
Alt rs397508960(-;-)
Reference Rs397508960(TC;TC)
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.41245197_41245198delGA
CLNSRC ClinVar
CLNACC RCV000047808.2, RCV000257645.2,