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rs397509040

From SNPedia

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


Make rs397509040(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092376
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509040
dbSNP (classic)rs397509040
ClinGenrs397509040
ebirs397509040
HLIrs397509040
Exacrs397509040
Gnomadrs397509040
Varsomers397509040
LitVarrs397509040
Maprs397509040
PheGenIrs397509040
Biobankrs397509040
1000 genomesrs397509040
hgdprs397509040
ensemblrs397509040
geneviewrs397509040
scholarrs397509040
googlers397509040
pharmgkbrs397509040
gwascentralrs397509040
openSNPrs397509040
23andMers397509040
SNPshotrs397509040
SNPdbers397509040
MSV3drs397509040
GWAS Ctlgrs397509040
Max Magnitude6
ClinVar
Risk rs397509040(-;-)
Alt rs397509040(-;-)
Reference Rs397509040(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.41244393delT
CLNSRC ClinVar
CLNACC RCV000048085.2, RCV000225566.2,