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rs587782834

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AA) 6 BRCA1 variant considered pathogenic for breast cancer
(AA;AA) 0 common in clinvar


Make rs587782834(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43091561
GeneBRCA1
is asnp
is mentioned by
dbSNPrs587782834
dbSNP (classic)rs587782834
ClinGenrs587782834
ebirs587782834
HLIrs587782834
Exacrs587782834
Gnomadrs587782834
Varsomers587782834
LitVarrs587782834
Maprs587782834
PheGenIrs587782834
Biobankrs587782834
1000 genomesrs587782834
hgdprs587782834
ensemblrs587782834
geneviewrs587782834
scholarrs587782834
googlers587782834
pharmgkbrs587782834
gwascentralrs587782834
openSNPrs587782834
23andMers587782834
SNPshotrs587782834
SNPdbers587782834
MSV3drs587782834
GWAS Ctlgrs587782834
Max Magnitude6

aka c.788-530_788-529del

ClinVar
Risk rs587782834(-;-)
Alt rs587782834(-;-)
Reference Rs587782834(AA;AA)
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.41243578_41243579delTT
CLNSRC
CLNACC RCV000132419.2, RCV000241067.1,