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rs397507608

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;G) 6 Likely miscall in Ancestry and possibly 23andMe data; otherwise, BRCA2 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs397507608(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333283
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507608
dbSNP (classic)rs397507608
ClinGenrs397507608
ebirs397507608
HLIrs397507608
Exacrs397507608
Gnomadrs397507608
Varsomers397507608
LitVarrs397507608
Maprs397507608
PheGenIrs397507608
Biobankrs397507608
1000 genomesrs397507608
hgdprs397507608
ensemblrs397507608
geneviewrs397507608
scholarrs397507608
googlers397507608
pharmgkbrs397507608
gwascentralrs397507608
openSNPrs397507608
23andMers397507608
SNPshotrs397507608
SNPdbers397507608
MSV3drs397507608
GWAS Ctlgrs397507608
Max Magnitude6

aka c.1805delG (p.Gly602Glufs)

ClinVar
Risk rs397507608(-;-)
Alt rs397507608(-;-)
Reference Rs397507608(G;G)
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.32907420delG
CLNSRC ClinVar
CLNACC RCV000043894.2, RCV000257598.2,