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rs80356969

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356969(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43049174
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356969
ebirs80356969
HLIrs80356969
Exacrs80356969
Varsomers80356969
Maprs80356969
PheGenIrs80356969
hapmaprs80356969
1000 genomesrs80356969
hgdprs80356969
ensemblrs80356969
gopubmedrs80356969
geneviewrs80356969
scholarrs80356969
googlers80356969
pharmgkbrs80356969
gwascentralrs80356969
openSNPrs80356969
23andMers80356969
23andMe allrs80356969
SNP Nexus

SNPshotrs80356969
SNPdbers80356969
MSV3drs80356969
GWAS Ctlgrs80356969
Max Magnitude6
rs80356969, also known as Q1785X, c.5353C>T and p.Gln1785Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356969(T;T)
Alt rs80356969(T;T)
Reference rs80356969(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations not provided
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations not provided
Reversed 1
HGVS NC_000017.10:g.41201191G>A
CLNSRC ClinVar
CLNACC RCV000048955.3, RCV000077618.3, RCV000223567.1, RCV000236216.1,