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rs587780798

From SNPedia

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


Make rs587780798(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43093025
GeneBRCA1
is asnp
is mentioned by
dbSNPrs587780798
dbSNP (classic)rs587780798
ClinGenrs587780798
ebirs587780798
HLIrs587780798
Exacrs587780798
Gnomadrs587780798
Varsomers587780798
LitVarrs587780798
Maprs587780798
PheGenIrs587780798
Biobankrs587780798
1000 genomesrs587780798
hgdprs587780798
ensemblrs587780798
geneviewrs587780798
scholarrs587780798
googlers587780798
pharmgkbrs587780798
gwascentralrs587780798
openSNPrs587780798
23andMers587780798
SNPshotrs587780798
SNPdbers587780798
MSV3drs587780798
GWAS Ctlgrs587780798
Max Magnitude6

BRCA1, c.2506delG (p.Glu836Lysfs)

ClinVar
Risk rs587780798(-;-)
Alt rs587780798(-;-)
Reference Rs587780798(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245042delC
CLNSRC
CLNACC RCV000123270.1, RCV000241278.1,