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rs80358150

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 Normal


Make rs80358150(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057051
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358150
dbSNP (old)rs80358150
ClinGenrs80358150
ebirs80358150
HLIrs80358150
Exacrs80358150
Varsomers80358150
Maprs80358150
PheGenIrs80358150
Biobankrs80358150
1000 genomesrs80358150
hgdprs80358150
ensemblrs80358150
gopubmedrs80358150
geneviewrs80358150
scholarrs80358150
googlers80358150
pharmgkbrs80358150
gwascentralrs80358150
openSNPrs80358150
23andMers80358150
23andMe allrs80358150
SNP Nexus

SNPshotrs80358150
SNPdbers80358150
MSV3drs80358150
GWAS Ctlgrs80358150
Max Magnitude6
ClinVar
Risk rs80358150(A;A) rs80358150(C;C)
Alt rs80358150(A;A) rs80358150(C;C)
Reference Rs80358150(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41209068C>G; NC_000017.10:g.41209068C>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 RCV000048897.2, RCV000031235.7, RCV000074601.6, RCV000131865.4, RCV000235135.2,