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rs397508975

From SNPedia

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


Make rs397508975(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093013
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508975
dbSNP (classic)rs397508975
ClinGenrs397508975
ebirs397508975
HLIrs397508975
Exacrs397508975
Gnomadrs397508975
Varsomers397508975
LitVarrs397508975
Maprs397508975
PheGenIrs397508975
Biobankrs397508975
1000 genomesrs397508975
hgdprs397508975
ensemblrs397508975
geneviewrs397508975
scholarrs397508975
googlers397508975
pharmgkbrs397508975
gwascentralrs397508975
openSNPrs397508975
23andMers397508975
SNPshotrs397508975
SNPdbers397508975
MSV3drs397508975
GWAS Ctlgrs397508975
Max Magnitude6
ClinVar
Risk rs397508975(-;-)
Alt rs397508975(-;-)
Reference Rs397508975(A;A)
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.41245030delT
CLNSRC ClinVar
CLNACC RCV000047866.2, RCV000257345.2,