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rs80359577

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359577(-;-)
Make rs80359577(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340728
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359577
ebirs80359577
HLIrs80359577
Exacrs80359577
Varsomers80359577
Maprs80359577
PheGenIrs80359577
hapmaprs80359577
1000 genomesrs80359577
hgdprs80359577
ensemblrs80359577
gopubmedrs80359577
geneviewrs80359577
scholarrs80359577
googlers80359577
pharmgkbrs80359577
gwascentralrs80359577
openSNPrs80359577
23andMers80359577
23andMe allrs80359577
SNP Nexus

SNPshotrs80359577
SNPdbers80359577
MSV3drs80359577
GWAS Ctlgrs80359577
Max Magnitude6
rs80359577, also known as 6601insA, c.6373_6374insA and p.Thr2125?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359577(A;A)
Alt rs80359577(A;A)
Reference rs80359577(;)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32914865dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031623.4, RCV000044926.4, RCV000164585.1, RCV000203626.1,