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rs690016540

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs690016540(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32337646
GeneBRCA2
is asnp
is mentioned by
dbSNPrs690016540
dbSNP (classic)rs690016540
ClinGenrs690016540
ebirs690016540
HLIrs690016540
Exacrs690016540
Gnomadrs690016540
Varsomers690016540
LitVarrs690016540
Maprs690016540
PheGenIrs690016540
Biobankrs690016540
1000 genomesrs690016540
hgdprs690016540
ensemblrs690016540
geneviewrs690016540
scholarrs690016540
googlers690016540
pharmgkbrs690016540
gwascentralrs690016540
openSNPrs690016540
23andMers690016540
SNPshotrs690016540
SNPdbers690016540
MSV3drs690016540
GWAS Ctlgrs690016540
Max Magnitude6
ClinVar
Risk rs690016540(T;T)
Alt rs690016540(T;T)
Reference Rs690016540(-;-)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911783dupT
CLNSRC VariO
CLNACC RCV000149513.1, RCV000241036.1,