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rs80359622

From SNPedia

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


Make rs80359622(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32341098
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359622
ebirs80359622
HLIrs80359622
Exacrs80359622
Varsomers80359622
Maprs80359622
PheGenIrs80359622
hapmaprs80359622
1000 genomesrs80359622
hgdprs80359622
ensemblrs80359622
gopubmedrs80359622
geneviewrs80359622
scholarrs80359622
googlers80359622
pharmgkbrs80359622
gwascentralrs80359622
openSNPrs80359622
23andMers80359622
23andMe allrs80359622
SNP Nexus

SNPshotrs80359622
SNPdbers80359622
MSV3drs80359622
GWAS Ctlgrs80359622
Max Magnitude6
rs80359622, also known as 6971del13, c.6743_6755del and p.His2248_Ser2252?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359622(;)
Alt rs80359622(;)
Reference rs80359622(TCATGCCACACAT;TCATGCCACACAT)
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.32915235_32915247delATGCCACACATTC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045038.2, RCV000113636.2,