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rs80359030

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359030(A;A)
Make rs80359030(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363189
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359030
dbSNP (classic)rs80359030
ClinGenrs80359030
ebirs80359030
HLIrs80359030
Exacrs80359030
Gnomadrs80359030
Varsomers80359030
LitVarrs80359030
Maprs80359030
PheGenIrs80359030
Biobankrs80359030
1000 genomesrs80359030
hgdprs80359030
ensemblrs80359030
geneviewrs80359030
scholarrs80359030
googlers80359030
pharmgkbrs80359030
gwascentralrs80359030
openSNPrs80359030
23andMers80359030
SNPshotrs80359030
SNPdbers80359030
MSV3drs80359030
GWAS Ctlgrs80359030
Max Magnitude6
ClinVar
Risk rs80359030(A;A) rs80359030(T;T)
Alt rs80359030(A;A) rs80359030(T;T)
Reference Rs80359030(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32937326G>A; NC_000013.10:g.32937326G>T
CLNSRC ClinVar
CLNACC RCV000045374.2, RCV000077421.4, RCV000163114.2, RCV000241097.1,