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rs41293513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs41293513(A;C)
Make rs41293513(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363370
GeneBRCA2
is asnp
is mentioned by
dbSNPrs41293513
ebirs41293513
HLIrs41293513
Exacrs41293513
Varsomers41293513
Maprs41293513
PheGenIrs41293513
hapmaprs41293513
1000 genomesrs41293513
hgdprs41293513
ensemblrs41293513
gopubmedrs41293513
geneviewrs41293513
scholarrs41293513
googlers41293513
pharmgkbrs41293513
gwascentralrs41293513
openSNPrs41293513
23andMers41293513
23andMe allrs41293513
SNP Nexus

SNPshotrs41293513
SNPdbers41293513
MSV3drs41293513
GWAS Ctlgrs41293513
Max Magnitude0
ClinVar
Risk rs41293513(C,G,T;C,G,T)
Alt rs41293513(C,G,T;C,G,T)
Reference rs41293513(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided Tumor susceptibility linked to germline BAP1 mutations Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided Tumor susceptibility linked to germline BAP1 mutations Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32937507A>C; NC_000013.10:g.32937507A>G; NC_000013.10:g.32937507A>T
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000045437.4, RCV000113879.1, RCV000200976.1, RCV000218818.1, RCV000031724.6, RCV000045438.2, RCV000131682.2, RCV000216099.1, RCV000129267.2, RCV000205165.1, RCV000216158.1,