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rs1064794168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common/normal
(-;GT) 6 BRCA2 variant considered pathogenic for breast cancer
(GT;GT) 6 BRCA2 variant considered pathogenic for breast cancer
ReferenceGRCh38.p7 38.3/151
Chromosome13
Position32338668
GeneBRCA2
is asnp
is mentioned by
dbSNPrs1064794168
dbSNP (classic)rs1064794168
ClinGenrs1064794168
ebirs1064794168
HLIrs1064794168
Exacrs1064794168
Gnomadrs1064794168
Varsomers1064794168
LitVarrs1064794168
Maprs1064794168
PheGenIrs1064794168
Biobankrs1064794168
1000 genomesrs1064794168
hgdprs1064794168
ensemblrs1064794168
geneviewrs1064794168
scholarrs1064794168
googlers1064794168
pharmgkbrs1064794168
gwascentralrs1064794168
openSNPrs1064794168
23andMers1064794168
23andMe allrs1064794168
SNPshotrs1064794168
SNPdbers1064794168
MSV3drs1064794168
GWAS Ctlgrs1064794168
Max Magnitude6

aka NM_000059.3(BRCA2):c.4312_4313dupGT or (p.Ala1439Serfs)

Pathogenic variant based on expert panel submission to ClinVar