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rs80358158

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 Normal
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80358158(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106534
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358158
ebirs80358158
HLIrs80358158
Exacrs80358158
Varsomers80358158
Maprs80358158
PheGenIrs80358158
hapmaprs80358158
1000 genomesrs80358158
hgdprs80358158
ensemblrs80358158
gopubmedrs80358158
geneviewrs80358158
scholarrs80358158
googlers80358158
pharmgkbrs80358158
gwascentralrs80358158
openSNPrs80358158
23andMers80358158
23andMe allrs80358158
SNP Nexus

SNPshotrs80358158
SNPdbers80358158
MSV3drs80358158
GWAS Ctlgrs80358158
Max Magnitude6

rs80358158, also known as c.135-1G>T and c.135-1G>C, represents a variant in the BRCA1 gene.

Both minor alleles are considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80358158(C,T;C,T)
Alt rs80358158(C,T;C,T)
Reference rs80358158(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41258551C>A; NC_000017.10:g.41258551C>G; NC_000017.10:g.41258551C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000030985.5, RCV000047435.2, RCV000131843.2, RCV000236913.1, RCV000047434.2, RCV000111858.1, RCV000235787.1,