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rs397509300

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;AACG) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509300(AACG;AACG)
ReferenceGRCh38 38.1/141
Chromosome17
Position43097267
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509300
dbSNP (classic)rs397509300
ClinGenrs397509300
ebirs397509300
HLIrs397509300
Exacrs397509300
Gnomadrs397509300
Varsomers397509300
LitVarrs397509300
Maprs397509300
PheGenIrs397509300
Biobankrs397509300
1000 genomesrs397509300
hgdprs397509300
ensemblrs397509300
geneviewrs397509300
scholarrs397509300
googlers397509300
pharmgkbrs397509300
gwascentralrs397509300
openSNPrs397509300
23andMers397509300
SNPshotrs397509300
SNPdbers397509300
MSV3drs397509300
GWAS Ctlgrs397509300
Max Magnitude6

aka c.569_570insAACG

ClinVar
Risk rs397509300(AACG;AACG)
Alt rs397509300(AACG;AACG)
Reference Rs397509300(-;-)
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.41249284_41249285insCGTT
CLNSRC ClinVar
CLNACC RCV000049062.2, RCV000258448.1,