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rs587781427

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs587781427(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43099836
GeneBRCA1
is asnp
is mentioned by
dbSNPrs587781427
dbSNP (old)rs587781427
ClinGenrs587781427
ebirs587781427
HLIrs587781427
Exacrs587781427
Gnomadrs587781427
Varsomers587781427
Maprs587781427
PheGenIrs587781427
Biobankrs587781427
1000 genomesrs587781427
hgdprs587781427
ensemblrs587781427
gopubmedrs587781427
geneviewrs587781427
scholarrs587781427
googlers587781427
pharmgkbrs587781427
gwascentralrs587781427
openSNPrs587781427
23andMers587781427
23andMe allrs587781427
SNP Nexus

SNPshotrs587781427
SNPdbers587781427
MSV3drs587781427
GWAS Ctlgrs587781427
Max Magnitude6

BRCA1, c.485dupT (p.Arg163Glufs)

ClinVar
Risk rs587781427(T;T)
Alt rs587781427(T;T)
Reference Rs587781427(-;-)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41251854dupA
CLNSRC
CLNACC RCV000129310.3, RCV000241435.1,