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rs864622073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs864622073(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position32339371
GeneBRCA2
is asnp
is mentioned by
dbSNPrs864622073
dbSNP (classic)rs864622073
ClinGenrs864622073
ebirs864622073
HLIrs864622073
Exacrs864622073
Gnomadrs864622073
Varsomers864622073
LitVarrs864622073
Maprs864622073
PheGenIrs864622073
Biobankrs864622073
1000 genomesrs864622073
hgdprs864622073
ensemblrs864622073
geneviewrs864622073
scholarrs864622073
googlers864622073
pharmgkbrs864622073
gwascentralrs864622073
openSNPrs864622073
23andMers864622073
SNPshotrs864622073
SNPdbers864622073
MSV3drs864622073
GWAS Ctlgrs864622073
Max Magnitude6

aka c.5016C>G (p.Tyr1672Ter)

23andMe name: i709068

ClinVar
Risk rs864622073(G;G)
Alt rs864622073(G;G)
Reference Rs864622073(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913508C>G
CLNSRC
CLNACC RCV000204412.1, RCV000241039.2,