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rs80358054

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80358054(A;G)
Make rs80358054(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074523
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358054
dbSNP (classic)rs80358054
ClinGenrs80358054
ebirs80358054
HLIrs80358054
Exacrs80358054
Gnomadrs80358054
Varsomers80358054
LitVarrs80358054
Maprs80358054
PheGenIrs80358054
Biobankrs80358054
1000 genomesrs80358054
hgdprs80358054
ensemblrs80358054
geneviewrs80358054
scholarrs80358054
googlers80358054
pharmgkbrs80358054
gwascentralrs80358054
openSNPrs80358054
23andMers80358054
SNPshotrs80358054
SNPdbers80358054
MSV3drs80358054
GWAS Ctlgrs80358054
Max Magnitude6
ClinVar
Risk rs80358054(G;G)
Alt rs80358054(G;G)
Reference Rs80358054(A;A)
Significance Other
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41226540T>C
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000077574.6, RCV000131885.3, RCV000235822.1, RCV000257895.3,