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rs587781632

From SNPedia

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


Make rs587781632(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43106476
GeneBRCA1
is asnp
is mentioned by
dbSNPrs587781632
dbSNP (classic)rs587781632
ClinGenrs587781632
ebirs587781632
HLIrs587781632
Exacrs587781632
Gnomadrs587781632
Varsomers587781632
LitVarrs587781632
Maprs587781632
PheGenIrs587781632
Biobankrs587781632
1000 genomesrs587781632
hgdprs587781632
ensemblrs587781632
geneviewrs587781632
scholarrs587781632
googlers587781632
pharmgkbrs587781632
gwascentralrs587781632
openSNPrs587781632
23andMers587781632
SNPshotrs587781632
SNPdbers587781632
MSV3drs587781632
GWAS Ctlgrs587781632
Max Magnitude6
ClinVar
Risk rs587781632(A;A) rs587781632(G;G)
Alt rs587781632(A;A) rs587781632(G;G)
Reference Rs587781632(T;T)
Significance Pathogenic
Disease Neoplasm of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Neoplasm of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41258493A>C; NC_000017.10:g.41258493A>T
CLNSRC
CLNACC RCV000240686.1, RCV000258255.1, RCV000129739.2, RCV000241417.1,