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rs730881611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GCAT) 6 Possible miscall in Ancestry v2c data; otherwise, BRCA2 variant considered pathogenic for breast cancer
Make rs730881611(GCAT;GCAT)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32340625
GeneBRCA2
is asnp
is mentioned by
dbSNPrs730881611
dbSNP (classic)rs730881611
ClinGenrs730881611
ebirs730881611
HLIrs730881611
Exacrs730881611
Gnomadrs730881611
Varsomers730881611
LitVarrs730881611
Maprs730881611
PheGenIrs730881611
Biobankrs730881611
1000 genomesrs730881611
hgdprs730881611
ensemblrs730881611
geneviewrs730881611
scholarrs730881611
googlers730881611
pharmgkbrs730881611
gwascentralrs730881611
openSNPrs730881611
23andMers730881611
SNPshotrs730881611
SNPdbers730881611
MSV3drs730881611
GWAS Ctlgrs730881611
Max Magnitude6

Also known as c.6267_6270dupGCAT (p.Ser2091delinsAlaTer)

ClinVar
Risk rs730881611(GCAT;GCAT)
Alt rs730881611(GCAT;GCAT)
Reference Rs730881611(-;-)
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.32914759_32914762dupGCAT
CLNSRC
CLNACC RCV000160299.1, RCV000241240.1,