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rs80358027

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 Normal
Make rs80358027(A;A)
Make rs80358027(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43082403
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358027
ebirs80358027
HLIrs80358027
Exacrs80358027
Varsomers80358027
Maprs80358027
PheGenIrs80358027
hapmaprs80358027
1000 genomesrs80358027
hgdprs80358027
ensemblrs80358027
gopubmedrs80358027
geneviewrs80358027
scholarrs80358027
googlers80358027
pharmgkbrs80358027
gwascentralrs80358027
openSNPrs80358027
23andMers80358027
23andMe allrs80358027
SNP Nexus

SNPshotrs80358027
SNPdbers80358027
MSV3drs80358027
GWAS Ctlgrs80358027
GMAF0.0
Max Magnitude0
ClinVar
Risk rs80358027(A,C,T;A,C,T)
Alt rs80358027(A,C,T;A,C,T)
Reference rs80358027(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41234420C>A; NC_000017.10:g.41234420C>G; NC_000017.10:g.41234420C>T
CLNSRC Breast Cancer Information Core (BRCA1) Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000048534.2, RCV000112325.1, RCV000222812.1, RCV000048533.2, RCV000112324.1, RCV000215639.1, RCV000031165.7, RCV000048532.5, RCV000131879.2, RCV000167804.1,