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rs80359778

From SNPedia

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


Make rs80359778(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332472
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359778
ebirs80359778
HLIrs80359778
Exacrs80359778
Varsomers80359778
Maprs80359778
PheGenIrs80359778
hapmaprs80359778
1000 genomesrs80359778
hgdprs80359778
ensemblrs80359778
gopubmedrs80359778
geneviewrs80359778
scholarrs80359778
googlers80359778
pharmgkbrs80359778
gwascentralrs80359778
openSNPrs80359778
23andMers80359778
23andMe allrs80359778
SNP Nexus

SNPshotrs80359778
SNPdbers80359778
MSV3drs80359778
GWAS Ctlgrs80359778
Max Magnitude6
rs80359778, also known as 1222delA, c.994_994delA and p.Ile332Phefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359778(;)
Alt rs80359778(;)
Reference rs80359778(A;A)
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.32906609delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045923.2, RCV000112872.1,