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rs869320800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GTAAA) 6 BRCA2 variant considered pathogenic for breast cancer
(AAAGT;AAAGT) 0 common in clinvar
Make rs869320800(-;-)
Make rs869320800(GTAAA;GTAAA)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position32379849
GeneBRCA2
is asnp
is mentioned by
dbSNPrs869320800
dbSNP (classic)rs869320800
ClinGenrs869320800
ebirs869320800
HLIrs869320800
Exacrs869320800
Gnomadrs869320800
Varsomers869320800
LitVarrs869320800
Maprs869320800
PheGenIrs869320800
Biobankrs869320800
1000 genomesrs869320800
hgdprs869320800
ensemblrs869320800
geneviewrs869320800
scholarrs869320800
googlers869320800
pharmgkbrs869320800
gwascentralrs869320800
openSNPrs869320800
23andMers869320800
SNPshotrs869320800
SNPdbers869320800
MSV3drs869320800
GWAS Ctlgrs869320800
Max Magnitude6

aka c.9053_9057delGTAAA

ClinVar
Risk rs869320800(-;-)
Alt rs869320800(-;-)
Reference Rs869320800(AAAGT;AAAGT)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32953986_32953990delGTAAA
CLNSRC
CLNACC RCV000210999.1,