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rs1064795140

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 BRCA2 variant considered pathogenic for breast cancer
(G;G) 0 common/normal


Make rs1064795140(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position32357911
GeneBRCA2
is asnp
is mentioned by
dbSNPrs1064795140
dbSNP (old)rs1064795140
ClinGenrs1064795140
ebirs1064795140
HLIrs1064795140
Exacrs1064795140
Gnomadrs1064795140
Varsomers1064795140
Maprs1064795140
PheGenIrs1064795140
Biobankrs1064795140
1000 genomesrs1064795140
hgdprs1064795140
ensemblrs1064795140
gopubmedrs1064795140
geneviewrs1064795140
scholarrs1064795140
googlers1064795140
pharmgkbrs1064795140
gwascentralrs1064795140
openSNPrs1064795140
23andMers1064795140
23andMe allrs1064795140
SNPshotrs1064795140
SNPdbers1064795140
MSV3drs1064795140
GWAS Ctlgrs1064795140
Max Magnitude6

aka c.7787G>A (p.Gly2596Glu)

Classified as a BRCA2 gene pathogenic mutation for breast cancer based on likelihood cited in ClinVar and in [PMID 29394989]