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rs483353119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs483353119(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32355136
GeneBRCA2
is asnp
is mentioned by
dbSNPrs483353119
dbSNP (classic)rs483353119
ClinGenrs483353119
ebirs483353119
HLIrs483353119
Exacrs483353119
Gnomadrs483353119
Varsomers483353119
LitVarrs483353119
Maprs483353119
PheGenIrs483353119
Biobankrs483353119
1000 genomesrs483353119
hgdprs483353119
ensemblrs483353119
geneviewrs483353119
scholarrs483353119
googlers483353119
pharmgkbrs483353119
gwascentralrs483353119
openSNPrs483353119
23andMers483353119
SNPshotrs483353119
SNPdbers483353119
MSV3drs483353119
GWAS Ctlgrs483353119
Max Magnitude6

aka c.7283delT

ClinVar
Risk rs483353119(-;-)
Alt rs483353119(-;-)
Reference Rs483353119(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32929273delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113742.2,