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rs80359247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359247(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32398396
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359247
dbSNP (classic)rs80359247
ClinGenrs80359247
ebirs80359247
HLIrs80359247
Exacrs80359247
Gnomadrs80359247
Varsomers80359247
LitVarrs80359247
Maprs80359247
PheGenIrs80359247
Biobankrs80359247
1000 genomesrs80359247
hgdprs80359247
ensemblrs80359247
geneviewrs80359247
scholarrs80359247
googlers80359247
pharmgkbrs80359247
gwascentralrs80359247
openSNPrs80359247
23andMers80359247
SNPshotrs80359247
SNPdbers80359247
MSV3drs80359247
GWAS Ctlgrs80359247
Max Magnitude6
ClinVar
Risk rs80359247(T;T)
Alt rs80359247(T;T)
Reference Rs80359247(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not specified
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not specified
Reversed 0
HGVS NC_000013.10:g.32972533C>T
CLNSRC ClinVar
CLNACC RCV000045909.2, RCV000112819.3, RCV000238720.1,