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rs80359750

From SNPedia

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


Make rs80359750(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32380046
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359750
ebirs80359750
HLIrs80359750
Exacrs80359750
Varsomers80359750
Maprs80359750
PheGenIrs80359750
hapmaprs80359750
1000 genomesrs80359750
hgdprs80359750
ensemblrs80359750
gopubmedrs80359750
geneviewrs80359750
scholarrs80359750
googlers80359750
pharmgkbrs80359750
gwascentralrs80359750
openSNPrs80359750
23andMers80359750
23andMe allrs80359750
SNP Nexus

SNPshotrs80359750
SNPdbers80359750
MSV3drs80359750
GWAS Ctlgrs80359750
Max Magnitude6
rs80359750, also known as 9385delG, c.9157_9157delG and p.Glu3053Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359750(;)
Alt rs80359750(;)
Reference rs80359750(G;G)
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.32954183delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045734.2, RCV000114056.1,