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rs397507672

From SNPedia

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


Make rs397507672(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337842
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507672
dbSNP (classic)rs397507672
ClinGenrs397507672
ebirs397507672
HLIrs397507672
Exacrs397507672
Gnomadrs397507672
Varsomers397507672
LitVarrs397507672
Maprs397507672
PheGenIrs397507672
Biobankrs397507672
1000 genomesrs397507672
hgdprs397507672
ensemblrs397507672
geneviewrs397507672
scholarrs397507672
googlers397507672
pharmgkbrs397507672
gwascentralrs397507672
openSNPrs397507672
23andMers397507672
SNPshotrs397507672
SNPdbers397507672
MSV3drs397507672
GWAS Ctlgrs397507672
Max Magnitude6

aka c.3487delG (p.Asp1163Ilefs)

23andMe name: i5009175

ClinVar
Risk rs397507672(-;-)
Alt rs397507672(-;-)
Reference Rs397507672(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.32911979delG
CLNSRC ClinVar
CLNACC RCV000044205.2, RCV000241317.2,