Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 Normal
(A;C) 6 BRCA1 variant considered pathogenic for breast cancer
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80358011(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104263
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358011
dbSNP (classic)rs80358011
ClinGenrs80358011
ebirs80358011
HLIrs80358011
Exacrs80358011
Gnomadrs80358011
Varsomers80358011
LitVarrs80358011
Maprs80358011
PheGenIrs80358011
Biobankrs80358011
1000 genomesrs80358011
hgdprs80358011
ensemblrs80358011
geneviewrs80358011
scholarrs80358011
googlers80358011
pharmgkbrs80358011
gwascentralrs80358011
openSNPrs80358011
23andMers80358011
SNPshotrs80358011
SNPdbers80358011
MSV3drs80358011
GWAS Ctlgrs80358011
Max Magnitude6
ClinVar
Risk rs80358011(C;C) rs80358011(G;G) rs80358011(T;T)
Alt rs80358011(C;C) rs80358011(G;G) rs80358011(T;T)
Reference Rs80358011(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41256280T>A; NC_000017.10:g.41256280T>C; NC_000017.10:g.41256280T>G
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112248.1, RCV000048046.2, RCV000258368.1, RCV000031081.4, RCV000048045.2,