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rs80359590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359590(-;-)
Make rs80359590(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340799
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359590
ebirs80359590
HLIrs80359590
Exacrs80359590
Varsomers80359590
Maprs80359590
PheGenIrs80359590
hapmaprs80359590
1000 genomesrs80359590
hgdprs80359590
ensemblrs80359590
gopubmedrs80359590
geneviewrs80359590
scholarrs80359590
googlers80359590
pharmgkbrs80359590
gwascentralrs80359590
openSNPrs80359590
23andMers80359590
23andMe allrs80359590
SNP Nexus

SNPshotrs80359590
SNPdbers80359590
MSV3drs80359590
GWAS Ctlgrs80359590
Max Magnitude6
rs80359590, also known as 6672insT, c.6444_6445insT and p.Ser2148_Ile2149?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359590(T;T)
Alt rs80359590(T;T)
Reference rs80359590(;)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32914936dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031628.4, RCV000044952.3,