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rs80358020

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80358020(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094861
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358020
ClinGenrs80358020
ebirs80358020
HLIrs80358020
Exacrs80358020
Varsomers80358020
Maprs80358020
PheGenIrs80358020
hapmaprs80358020
1000 genomesrs80358020
hgdprs80358020
ensemblrs80358020
gopubmedrs80358020
geneviewrs80358020
scholarrs80358020
googlers80358020
pharmgkbrs80358020
gwascentralrs80358020
openSNPrs80358020
23andMers80358020
23andMe allrs80358020
SNP Nexus

SNPshotrs80358020
SNPdbers80358020
MSV3drs80358020
GWAS Ctlgrs80358020
Max Magnitude6
ClinVar
Risk rs80358020(A;A) rs80358020(C;C) rs80358020(T;T)
Alt rs80358020(A;A) rs80358020(C;C) rs80358020(T;T)
Reference Rs80358020(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome not specified Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not specified Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41246878C>A; NC_000017.10:g.41246878C>G; NC_000017.10:g.41246878C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112766.1, RCV000131864.2, RCV000077180.2, RCV000236539.1, RCV000049089.2, RCV000258167.1,