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rs80359617

From SNPedia

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


Make rs80359617(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32341013
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359617
ebirs80359617
HLIrs80359617
Exacrs80359617
Varsomers80359617
Maprs80359617
PheGenIrs80359617
hapmaprs80359617
1000 genomesrs80359617
hgdprs80359617
ensemblrs80359617
gopubmedrs80359617
geneviewrs80359617
scholarrs80359617
googlers80359617
pharmgkbrs80359617
gwascentralrs80359617
openSNPrs80359617
23andMers80359617
23andMe allrs80359617
SNP Nexus

SNPshotrs80359617
SNPdbers80359617
MSV3drs80359617
GWAS Ctlgrs80359617
Max Magnitude6
rs80359617, also known as 6886del4, c.6658_6661delGAAA and p.Glu2220_Asn2221?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359617(;)
Alt rs80359617(;)
Reference rs80359617(AGAA;AGAA)
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.32915150_32915153delGAAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045011.2, RCV000113623.1,