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rs80358070

From SNPedia

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


Make rs80358070(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091033
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358070
dbSNP (old)rs80358070
ClinGenrs80358070
ebirs80358070
HLIrs80358070
Exacrs80358070
Gnomadrs80358070
Varsomers80358070
Maprs80358070
PheGenIrs80358070
Biobankrs80358070
1000 genomesrs80358070
hgdprs80358070
ensemblrs80358070
gopubmedrs80358070
geneviewrs80358070
scholarrs80358070
googlers80358070
pharmgkbrs80358070
gwascentralrs80358070
openSNPrs80358070
23andMers80358070
23andMe allrs80358070
SNP Nexus

SNPshotrs80358070
SNPdbers80358070
MSV3drs80358070
GWAS Ctlgrs80358070
Max Magnitude6
ClinVar
Risk rs80358070(A;A)
Alt rs80358070(A;A)
Reference Rs80358070(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41243050C>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 RCV000031148.5, RCV000048443.2,