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rs397507731

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs397507731(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338948
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507731
dbSNP (classic)rs397507731
ClinGenrs397507731
ebirs397507731
HLIrs397507731
Exacrs397507731
Gnomadrs397507731
Varsomers397507731
LitVarrs397507731
Maprs397507731
PheGenIrs397507731
Biobankrs397507731
1000 genomesrs397507731
hgdprs397507731
ensemblrs397507731
geneviewrs397507731
scholarrs397507731
googlers397507731
pharmgkbrs397507731
gwascentralrs397507731
openSNPrs397507731
23andMers397507731
SNPshotrs397507731
SNPdbers397507731
MSV3drs397507731
GWAS Ctlgrs397507731
Max Magnitude6

aka c.4593delA, c.4593delAA, and c.4593dupA; all 3 are considered pathogenic for breast cancer in ClinVar

ClinVar
Risk rs397507731(-;-)
Alt rs397507731(-;-)
Reference Rs397507731(A;A)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32913085delA
CLNSRC ClinVar
CLNACC RCV000044449.2,