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rs80358069

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80358069(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057137
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358069
ebirs80358069
HLIrs80358069
Exacrs80358069
Varsomers80358069
Maprs80358069
PheGenIrs80358069
hapmaprs80358069
1000 genomesrs80358069
hgdprs80358069
ensemblrs80358069
gopubmedrs80358069
geneviewrs80358069
scholarrs80358069
googlers80358069
pharmgkbrs80358069
gwascentralrs80358069
openSNPrs80358069
23andMers80358069
23andMe allrs80358069
SNP Nexus

SNPshotrs80358069
SNPdbers80358069
MSV3drs80358069
GWAS Ctlgrs80358069
Max Magnitude6

c.5194-2A>G

considered pathogenic for breast cancer in ClinVar

ClinVar
Risk rs80358069(C,G;C,G)
Alt rs80358069(C,G;C,G)
Reference rs80358069(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41209154T>C; NC_000017.10:g.41209154T>G
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031228.5, RCV000048853.2, RCV000131860.2, RCV000048852.2,