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rs80358015

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 BRCA1 variant considered pathogenic for breast cancer
Make rs80358015(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091432
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358015
ebirs80358015
HLIrs80358015
Exacrs80358015
Varsomers80358015
Maprs80358015
PheGenIrs80358015
hapmaprs80358015
1000 genomesrs80358015
hgdprs80358015
ensemblrs80358015
gopubmedrs80358015
geneviewrs80358015
scholarrs80358015
googlers80358015
pharmgkbrs80358015
gwascentralrs80358015
openSNPrs80358015
23andMers80358015
23andMe allrs80358015
SNP Nexus

SNPshotrs80358015
SNPdbers80358015
MSV3drs80358015
GWAS Ctlgrs80358015
Max Magnitude5

c.4096+3A>G

considered pathogenic for breast cancer in ClinVar

ClinVar
Risk rs80358015(G;G)
Alt rs80358015(G;G)
Reference rs80358015(A;A)
Significance Other
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243449T>C
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031147.6, RCV000048442.4, RCV000164655.1,