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rs397507192

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397507192(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093802
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507192
dbSNP (classic)rs397507192
ClinGenrs397507192
ebirs397507192
HLIrs397507192
Exacrs397507192
Gnomadrs397507192
Varsomers397507192
LitVarrs397507192
Maprs397507192
PheGenIrs397507192
Biobankrs397507192
1000 genomesrs397507192
hgdprs397507192
ensemblrs397507192
geneviewrs397507192
scholarrs397507192
googlers397507192
pharmgkbrs397507192
gwascentralrs397507192
openSNPrs397507192
23andMers397507192
SNPshotrs397507192
SNPdbers397507192
MSV3drs397507192
GWAS Ctlgrs397507192
Max Magnitude6
ClinVar
Risk rs397507192(A;A)
Alt rs397507192(A;A)
Reference Rs397507192(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245820dupT
CLNSRC ClinVar
CLNACC RCV000031009.4,