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rs80358019

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 5 BRCA1 variant considered pathogenic for breast cancer
(A;G) 5 BRCA1 variant considered pathogenic for breast cancer
Make rs80358019(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091034
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358019
ebirs80358019
HLIrs80358019
Exacrs80358019
Varsomers80358019
Maprs80358019
PheGenIrs80358019
hapmaprs80358019
1000 genomesrs80358019
hgdprs80358019
ensemblrs80358019
gopubmedrs80358019
geneviewrs80358019
scholarrs80358019
googlers80358019
pharmgkbrs80358019
gwascentralrs80358019
openSNPrs80358019
23andMers80358019
23andMe allrs80358019
SNP Nexus

SNPshotrs80358019
SNPdbers80358019
MSV3drs80358019
GWAS Ctlgrs80358019
Max Magnitude5

c.4097-2A>C and also c.4097-2A>G

considered pathogenic for breast cancer in ClinVar

ClinVar
Risk rs80358019(C,G;C,G)
Alt rs80358019(C,G;C,G)
Reference rs80358019(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41243051T>C; NC_000017.10:g.41243051T>G
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048444.2, RCV000112256.1, RCV000159986.1,