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rs730881606

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs730881606(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32338467
GeneBRCA2
is asnp
is mentioned by
dbSNPrs730881606
dbSNP (classic)rs730881606
ClinGenrs730881606
ebirs730881606
HLIrs730881606
Exacrs730881606
Gnomadrs730881606
Varsomers730881606
LitVarrs730881606
Maprs730881606
PheGenIrs730881606
Biobankrs730881606
1000 genomesrs730881606
hgdprs730881606
ensemblrs730881606
geneviewrs730881606
scholarrs730881606
googlers730881606
pharmgkbrs730881606
gwascentralrs730881606
openSNPrs730881606
23andMers730881606
SNPshotrs730881606
SNPdbers730881606
MSV3drs730881606
GWAS Ctlgrs730881606
Max Magnitude6

aka c.4112dupA (p.Phe1372Valfs)

ClinVar
Risk rs730881606(A;A)
Alt rs730881606(A;A)
Reference Rs730881606(-;-)
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.32912604dupA
CLNSRC
CLNACC RCV000160283.1, RCV000241115.1,