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rs397507750

From SNPedia

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


Make rs397507750(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339281
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507750
dbSNP (classic)rs397507750
ClinGenrs397507750
ebirs397507750
HLIrs397507750
Exacrs397507750
Gnomadrs397507750
Varsomers397507750
LitVarrs397507750
Maprs397507750
PheGenIrs397507750
Biobankrs397507750
1000 genomesrs397507750
hgdprs397507750
ensemblrs397507750
geneviewrs397507750
scholarrs397507750
googlers397507750
pharmgkbrs397507750
gwascentralrs397507750
openSNPrs397507750
23andMers397507750
SNPshotrs397507750
SNPdbers397507750
MSV3drs397507750
GWAS Ctlgrs397507750
Max Magnitude6

aka c.4926_4935delTGTAGAAAAA

ClinVar
Risk rs397507750(-;-)
Alt rs397507750(-;-)
Reference Rs397507750(AAAATGTAGA;AAAATGTAGA)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32913418_32913427delTGTAGAAAAA
CLNSRC ClinVar
CLNACC RCV000044523.2,