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rs397509309

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509309(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43124028
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs397509309
dbSNP (classic)rs397509309
ClinGenrs397509309
ebirs397509309
HLIrs397509309
Exacrs397509309
Gnomadrs397509309
Varsomers397509309
LitVarrs397509309
Maprs397509309
PheGenIrs397509309
Biobankrs397509309
1000 genomesrs397509309
hgdprs397509309
ensemblrs397509309
geneviewrs397509309
scholarrs397509309
googlers397509309
pharmgkbrs397509309
gwascentralrs397509309
openSNPrs397509309
23andMers397509309
SNPshotrs397509309
SNPdbers397509309
MSV3drs397509309
GWAS Ctlgrs397509309
Max Magnitude6

aka c.-20dup

ClinVar
Risk rs397509309(A;A)
Alt rs397509309(A;A)
Reference Rs397509309(-;-)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene NBR2 BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41276046dupT
CLNSRC ClinVar
CLNACC RCV000049097.2, RCV000256616.2,