Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359647

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359647(-;-)
Make rs80359647(G;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position32355232
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359647
ebirs80359647
HLIrs80359647
Exacrs80359647
Varsomers80359647
Maprs80359647
PheGenIrs80359647
hapmaprs80359647
1000 genomesrs80359647
hgdprs80359647
ensemblrs80359647
gopubmedrs80359647
geneviewrs80359647
scholarrs80359647
googlers80359647
pharmgkbrs80359647
gwascentralrs80359647
openSNPrs80359647
23andMers80359647
23andMe allrs80359647
SNP Nexus

SNPshotrs80359647
SNPdbers80359647
MSV3drs80359647
GWAS Ctlgrs80359647
Max Magnitude6
rs80359647, also known as 7607insG, c.7379_7380insG and p.Asn2460?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359647(G;G)
Alt rs80359647(G;G)
Reference rs80359647(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32929369_32929370insG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113749.1,