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rs80358650

From SNPedia

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


Make rs80358650(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32316463
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358650
ebirs80358650
HLIrs80358650
Exacrs80358650
Varsomers80358650
Maprs80358650
PheGenIrs80358650
hapmaprs80358650
1000 genomesrs80358650
hgdprs80358650
ensemblrs80358650
gopubmedrs80358650
geneviewrs80358650
scholarrs80358650
googlers80358650
pharmgkbrs80358650
gwascentralrs80358650
openSNPrs80358650
23andMers80358650
23andMe allrs80358650
SNP Nexus

SNPshotrs80358650
SNPdbers80358650
MSV3drs80358650
GWAS Ctlgrs80358650
Max Magnitude6
rs80358650, also known as M1I, c.3G>A and p.Met1Ile, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358650(A;A) rs80358650(T;T)
Alt rs80358650(A;A) rs80358650(T;T)
Reference Rs80358650(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32890600G>A; NC_000013.10:g.32890600G>T
CLNSRC ClinVar
CLNACC RCV000044328.2, RCV000083102.4, RCV000162893.1, RCV000031452.4,