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rs80359618

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GAAAA) 6 BRCA2 variant considered pathogenic for breast cancer
(AGAAA;AGAAA) 0 common in clinvar
Make rs80359618(-;-)
Make rs80359618(GAAAA;GAAAA)
ReferenceGRCh38 38.1/142
Chromosome13
Position32341013
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359618
ebirs80359618
HLIrs80359618
Exacrs80359618
Varsomers80359618
Maprs80359618
PheGenIrs80359618
hapmaprs80359618
1000 genomesrs80359618
hgdprs80359618
ensemblrs80359618
gopubmedrs80359618
geneviewrs80359618
scholarrs80359618
googlers80359618
pharmgkbrs80359618
gwascentralrs80359618
openSNPrs80359618
23andMers80359618
23andMe allrs80359618
SNP Nexus

SNPshotrs80359618
SNPdbers80359618
MSV3drs80359618
GWAS Ctlgrs80359618
Max Magnitude6
rs80359618, also known as 6886del5, c.6658_6662delGAAAA and p.Glu2220_Asn2221?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359618(;)
Alt rs80359618(;)
Reference rs80359618(AGAAA;AGAAA)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32915150_32915154delGAAAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113624.1,