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rs587781948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587781948(C;T)
Make rs587781948(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position214730491
GeneBARD1
is asnp
is mentioned by
dbSNPrs587781948
dbSNP (classic)rs587781948
ClinGenrs587781948
ebirs587781948
HLIrs587781948
Exacrs587781948
Gnomadrs587781948
Varsomers587781948
LitVarrs587781948
Maprs587781948
PheGenIrs587781948
Biobankrs587781948
1000 genomesrs587781948
hgdprs587781948
ensemblrs587781948
geneviewrs587781948
scholarrs587781948
googlers587781948
pharmgkbrs587781948
gwascentralrs587781948
openSNPrs587781948
23andMers587781948
SNPshotrs587781948
SNPdbers587781948
MSV3drs587781948
GWAS Ctlgrs587781948
Max Magnitude0
ClinVar
Risk rs587781948(T;T)
Alt rs587781948(T;T)
Reference Rs587781948(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Variation info
Gene BARD1
CLNDBN Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Reversed 1
HGVS NC_000002.11:g.215595215G>A
CLNSRC
CLNACC RCV000130318.3, RCV000234673.2, RCV000236005.1,