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rs80357307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80357307(A;A)
Make rs80357307(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045760
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357307
ebirs80357307
HLIrs80357307
Exacrs80357307
Varsomers80357307
Maprs80357307
PheGenIrs80357307
hapmaprs80357307
1000 genomesrs80357307
hgdprs80357307
ensemblrs80357307
gopubmedrs80357307
geneviewrs80357307
scholarrs80357307
googlers80357307
pharmgkbrs80357307
gwascentralrs80357307
openSNPrs80357307
23andMers80357307
23andMe allrs80357307
SNP Nexus

SNPshotrs80357307
SNPdbers80357307
MSV3drs80357307
GWAS Ctlgrs80357307
Max Magnitude0
ClinVar
Risk rs80357307(A;A)
Alt rs80357307(A;A)
Reference rs80357307(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41197777C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049028.2, RCV000112689.1, RCV000218206.1,