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rs587782824

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs587782824(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43091951
GeneBRCA1
is asnp
is mentioned by
dbSNPrs587782824
dbSNP (classic)rs587782824
ClinGenrs587782824
ebirs587782824
HLIrs587782824
Exacrs587782824
Gnomadrs587782824
Varsomers587782824
LitVarrs587782824
Maprs587782824
PheGenIrs587782824
Biobankrs587782824
1000 genomesrs587782824
hgdprs587782824
ensemblrs587782824
geneviewrs587782824
scholarrs587782824
googlers587782824
pharmgkbrs587782824
gwascentralrs587782824
openSNPrs587782824
23andMers587782824
SNPshotrs587782824
SNPdbers587782824
MSV3drs587782824
GWAS Ctlgrs587782824
Max Magnitude6

c.3579_3580insT (p.Thr1194Tyrfs)

ClinVar
Risk rs587782824(T;T)
Alt rs587782824(T;T)
Reference Rs587782824(-;-)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243968_41243969insA
CLNSRC
CLNACC RCV000132400.2,