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rs398122553

From SNPedia

Merged intors80359575
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GA) 6 BRCA2 variant considered pathogenic for breast cancer
(AG;AG) 0 common in clinvar
(GA;GA) 0 common in clinvar


Make rs398122553(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32329446
GeneBRCA2
is asnp
is mentioned by
dbSNPrs398122553
dbSNP (classic)rs398122553
ClinGenrs398122553
ebirs398122553
HLIrs398122553
Exacrs398122553
Gnomadrs398122553
Varsomers398122553
LitVarrs398122553
Maprs398122553
PheGenIrs398122553
Biobankrs398122553
1000 genomesrs398122553
hgdprs398122553
ensemblrs398122553
geneviewrs398122553
scholarrs398122553
googlers398122553
pharmgkbrs398122553
gwascentralrs398122553
openSNPrs398122553
23andMers398122553
SNPshotrs398122553
SNPdbers398122553
MSV3drs398122553
GWAS Ctlgrs398122553
StatusMerged into rs80359575
Max Magnitude6
ClinVar
Risk
Alt
Reference Rs398122553(AG;AG)
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.32903583_32903584delGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044920.2, RCV000076962.5,