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rs587782392

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs587782392(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43071114
GeneBRCA1
is asnp
is mentioned by
dbSNPrs587782392
dbSNP (old)rs587782392
ClinGenrs587782392
ebirs587782392
HLIrs587782392
Exacrs587782392
Gnomadrs587782392
Varsomers587782392
Maprs587782392
PheGenIrs587782392
Biobankrs587782392
1000 genomesrs587782392
hgdprs587782392
ensemblrs587782392
gopubmedrs587782392
geneviewrs587782392
scholarrs587782392
googlers587782392
pharmgkbrs587782392
gwascentralrs587782392
openSNPrs587782392
23andMers587782392
23andMe allrs587782392
SNP Nexus

SNPshotrs587782392
SNPdbers587782392
MSV3drs587782392
GWAS Ctlgrs587782392
Max Magnitude6

BRCA1 mutation, aka c.4799dupT (p.Leu1600Phefs)

ClinVar
Risk rs587782392(T;T)
Alt rs587782392(T;T)
Reference Rs587782392(-;-)
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.41223132dupA
CLNSRC
CLNACC RCV000131402.1, RCV000241117.1,