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rs139052578

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs139052578(A;A)
Make rs139052578(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome13
Position32379503
GeneBRCA2
is asnp
is mentioned by
dbSNPrs139052578
dbSNP (old)rs139052578
ClinGenrs139052578
ebirs139052578
HLIrs139052578
Exacrs139052578
Gnomadrs139052578
Varsomers139052578
Maprs139052578
PheGenIrs139052578
Biobankrs139052578
1000 genomesrs139052578
hgdprs139052578
ensemblrs139052578
gopubmedrs139052578
geneviewrs139052578
scholarrs139052578
googlers139052578
pharmgkbrs139052578
gwascentralrs139052578
openSNPrs139052578
23andMers139052578
23andMe allrs139052578
SNPshotrs139052578
SNPdbers139052578
MSV3drs139052578
GWAS Ctlgrs139052578
Max Magnitude6
ClinVar
Risk rs139052578(A;A) rs139052578(T;T)
Alt rs139052578(A;A) rs139052578(T;T)
Reference Rs139052578(G;G)
Significance Pathogenic
Disease not provided Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN not provided Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32953640G>A; NC_000013.10:g.32953640G>T
CLNSRC
CLNACC RCV000034470.1, RCV000045661.4, RCV000130691.3, RCV000212283.2, RCV000257646.2,