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rs863224511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs863224511(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position43076498
GeneBRCA1
is asnp
is mentioned by
dbSNPrs863224511
dbSNP (classic)rs863224511
ClinGenrs863224511
ebirs863224511
HLIrs863224511
Exacrs863224511
Gnomadrs863224511
Varsomers863224511
LitVarrs863224511
Maprs863224511
PheGenIrs863224511
Biobankrs863224511
1000 genomesrs863224511
hgdprs863224511
ensemblrs863224511
geneviewrs863224511
scholarrs863224511
googlers863224511
pharmgkbrs863224511
gwascentralrs863224511
openSNPrs863224511
23andMers863224511
SNPshotrs863224511
SNPdbers863224511
MSV3drs863224511
GWAS Ctlgrs863224511
Max Magnitude6
ClinVar
Risk rs863224511(T;T)
Alt rs863224511(T;T)
Reference Rs863224511(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41228515C>A
CLNSRC
CLNACC RCV000198178.1, RCV000241009.1,