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rs730881617

From SNPedia

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


Make rs730881617(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32379516
GeneBRCA2
is asnp
is mentioned by
dbSNPrs730881617
dbSNP (classic)rs730881617
ClinGenrs730881617
ebirs730881617
HLIrs730881617
Exacrs730881617
Gnomadrs730881617
Varsomers730881617
LitVarrs730881617
Maprs730881617
PheGenIrs730881617
Biobankrs730881617
1000 genomesrs730881617
hgdprs730881617
ensemblrs730881617
geneviewrs730881617
scholarrs730881617
googlers730881617
pharmgkbrs730881617
gwascentralrs730881617
openSNPrs730881617
23andMers730881617
SNPshotrs730881617
SNPdbers730881617
MSV3drs730881617
GWAS Ctlgrs730881617
Max Magnitude6

aka c.8953+1delG

ClinVar
Risk rs730881617(-;-)
Alt rs730881617(-;-)
Reference Rs730881617(G;G)
Significance Pathogenic
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32953653delG
CLNSRC
CLNACC RCV000160310.1,