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rs80358041

From SNPedia

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


Make rs80358041(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43051062
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358041
dbSNP (old)rs80358041
ClinGenrs80358041
ebirs80358041
HLIrs80358041
Exacrs80358041
Gnomadrs80358041
Varsomers80358041
Maprs80358041
PheGenIrs80358041
Biobankrs80358041
1000 genomesrs80358041
hgdprs80358041
ensemblrs80358041
gopubmedrs80358041
geneviewrs80358041
scholarrs80358041
googlers80358041
pharmgkbrs80358041
gwascentralrs80358041
openSNPrs80358041
23andMers80358041
23andMe allrs80358041
SNP Nexus

SNPshotrs80358041
SNPdbers80358041
MSV3drs80358041
GWAS Ctlgrs80358041
Max Magnitude6
ClinVar
Risk rs80358041(A;A) rs80358041(C;C) rs80358041(T;T)
Alt rs80358041(A;A) rs80358041(C;C) rs80358041(T;T)
Reference Rs80358041(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast not provided Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast not provided Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41203079C>A; NC_000017.10:g.41203079C>G; NC_000017.10:g.41203079C>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000258497.1, RCV000048934.2, RCV000235344.1, RCV000048933.3, RCV000112615.3,