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rs276174866

From SNPedia

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


Make rs276174866(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340564
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174866
ebirs276174866
HLIrs276174866
Exacrs276174866
Varsomers276174866
Maprs276174866
PheGenIrs276174866
hapmaprs276174866
1000 genomesrs276174866
hgdprs276174866
ensemblrs276174866
gopubmedrs276174866
geneviewrs276174866
scholarrs276174866
googlers276174866
pharmgkbrs276174866
gwascentralrs276174866
openSNPrs276174866
23andMers276174866
23andMe allrs276174866
SNP Nexus

SNPshotrs276174866
SNPdbers276174866
MSV3drs276174866
GWAS Ctlgrs276174866
Max Magnitude6
rs276174866, also known as 6237del4, c.6209_6212delAAAG and p.Glu2070_Ser2071?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174866(;)
Alt rs276174866(;)
Reference rs276174866(AGAA;AGAA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32914701_32914704delAAAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044869.2, RCV000113545.1, RCV000213143.1,