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rs200078639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs200078639(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome13
Position32354916
GeneBRCA2
is asnp
is mentioned by
dbSNPrs200078639
dbSNP (old)rs200078639
ClinGenrs200078639
ebirs200078639
HLIrs200078639
Exacrs200078639
Gnomadrs200078639
Varsomers200078639
Maprs200078639
PheGenIrs200078639
Biobankrs200078639
1000 genomesrs200078639
hgdprs200078639
ensemblrs200078639
gopubmedrs200078639
geneviewrs200078639
scholarrs200078639
googlers200078639
pharmgkbrs200078639
gwascentralrs200078639
openSNPrs200078639
23andMers200078639
23andMe allrs200078639
SNPshotrs200078639
SNPdbers200078639
MSV3drs200078639
GWAS Ctlgrs200078639
Max Magnitude6

aka c.7063G>T (p.Glu2355Ter)

ClinVar
Risk rs200078639(A;A) rs200078639(T;T)
Alt rs200078639(A;A) rs200078639(T;T)
Reference Rs200078639(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32929053G>T
CLNSRC
CLNACC RCV000241131.2,