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rs80359214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 BRCA2 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar
Make rs80359214(G;T)
Make rs80359214(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319102
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359214
dbSNP (classic)rs80359214
ClinGenrs80359214
ebirs80359214
HLIrs80359214
Exacrs80359214
Gnomadrs80359214
Varsomers80359214
LitVarrs80359214
Maprs80359214
PheGenIrs80359214
Biobankrs80359214
1000 genomesrs80359214
hgdprs80359214
ensemblrs80359214
geneviewrs80359214
scholarrs80359214
googlers80359214
pharmgkbrs80359214
gwascentralrs80359214
openSNPrs80359214
23andMers80359214
SNPshotrs80359214
SNPdbers80359214
MSV3drs80359214
GWAS Ctlgrs80359214
Max Magnitude6
ClinVar
Risk rs80359214(A;A) rs80359214(C;C) rs80359214(T;T)
Alt rs80359214(A;A) rs80359214(C;C) rs80359214(T;T)
Reference Rs80359214(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32893239G>A; NC_000013.10:g.32893239G>C; NC_000013.10:g.32893239G>T
CLNSRC ClinVar
CLNACC RCV000045810.3, RCV000256653.2, RCV000164584.1, RCV000045811.3, RCV000113126.1,