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rs397509130

From SNPedia

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


Make rs397509130(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091488
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509130
dbSNP (old)rs397509130
ClinGenrs397509130
ebirs397509130
HLIrs397509130
Exacrs397509130
Gnomadrs397509130
Varsomers397509130
Maprs397509130
PheGenIrs397509130
Biobankrs397509130
1000 genomesrs397509130
hgdprs397509130
ensemblrs397509130
gopubmedrs397509130
geneviewrs397509130
scholarrs397509130
googlers397509130
pharmgkbrs397509130
gwascentralrs397509130
openSNPrs397509130
23andMers397509130
23andMe allrs397509130
SNP Nexus

SNPshotrs397509130
SNPdbers397509130
MSV3drs397509130
GWAS Ctlgrs397509130
Max Magnitude6
ClinVar
Risk rs397509130(-;-)
Alt rs397509130(-;-)
Reference Rs397509130(G;G)
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.41243505delC
CLNSRC ClinVar
CLNACC RCV000048420.2, RCV000257851.2,