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rs397509101

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509101(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104187
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509101
dbSNP (classic)rs397509101
ClinGenrs397509101
ebirs397509101
HLIrs397509101
Exacrs397509101
Gnomadrs397509101
Varsomers397509101
LitVarrs397509101
Maprs397509101
PheGenIrs397509101
Biobankrs397509101
1000 genomesrs397509101
hgdprs397509101
ensemblrs397509101
geneviewrs397509101
scholarrs397509101
googlers397509101
pharmgkbrs397509101
gwascentralrs397509101
openSNPrs397509101
23andMers397509101
SNPshotrs397509101
SNPdbers397509101
MSV3drs397509101
GWAS Ctlgrs397509101
Max Magnitude6

aka c.375_376insT

ClinVar
Risk rs397509101(T;T)
Alt rs397509101(T;T)
Reference Rs397509101(-;-)
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.41256204_41256205insA
CLNSRC ClinVar
CLNACC RCV000048319.2, RCV000257647.2,