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rs80358066

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 BRCA1 variant of unclear significance
Make rs80358066(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063953
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358066
ebirs80358066
HLIrs80358066
Exacrs80358066
Varsomers80358066
Maprs80358066
PheGenIrs80358066
hapmaprs80358066
1000 genomesrs80358066
hgdprs80358066
ensemblrs80358066
gopubmedrs80358066
geneviewrs80358066
scholarrs80358066
googlers80358066
pharmgkbrs80358066
gwascentralrs80358066
openSNPrs80358066
23andMers80358066
23andMe allrs80358066
SNP Nexus

SNPshotrs80358066
SNPdbers80358066
MSV3drs80358066
GWAS Ctlgrs80358066
Max Magnitude3

c.5075-2A>C

clinical significance unclear


ClinVar
Risk rs80358066(C,T;C,T)
Alt rs80358066(C,T;C,T)
Reference rs80358066(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41215970T>A; NC_000017.10:g.41215970T>C; NC_000017.10:g.41215970T>G
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048773.2, RCV000112488.1, RCV000238796.1, RCV000048772.2, RCV000112487.1,