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rs80356936

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80356936(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104260
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356936
ebirs80356936
HLIrs80356936
Exacrs80356936
Varsomers80356936
Maprs80356936
PheGenIrs80356936
hapmaprs80356936
1000 genomesrs80356936
hgdprs80356936
ensemblrs80356936
gopubmedrs80356936
geneviewrs80356936
scholarrs80356936
googlers80356936
pharmgkbrs80356936
gwascentralrs80356936
openSNPrs80356936
23andMers80356936
23andMe allrs80356936
SNP Nexus

SNPshotrs80356936
SNPdbers80356936
MSV3drs80356936
GWAS Ctlgrs80356936
Max Magnitude6
rs80356936, also known as Y101X, c.303T>G and p.Tyr101Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356936(C,G;C,G)
Alt rs80356936(C,G;C,G)
Reference rs80356936(T;T)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41256277A>C
CLNSRC ClinVar
CLNACC RCV000048054.2, RCV000074578.6, RCV000112260.1, RCV000162861.1,