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rs879255281

From SNPedia

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


Make rs879255281(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position43093113
GeneBRCA1
is asnp
is mentioned by
dbSNPrs879255281
dbSNP (classic)rs879255281
ClinGenrs879255281
ebirs879255281
HLIrs879255281
Exacrs879255281
Gnomadrs879255281
Varsomers879255281
LitVarrs879255281
Maprs879255281
PheGenIrs879255281
Biobankrs879255281
1000 genomesrs879255281
hgdprs879255281
ensemblrs879255281
geneviewrs879255281
scholarrs879255281
googlers879255281
pharmgkbrs879255281
gwascentralrs879255281
openSNPrs879255281
23andMers879255281
SNPshotrs879255281
SNPdbers879255281
MSV3drs879255281
GWAS Ctlgrs879255281
Max Magnitude6

aka c.2418delA (p.Ala807Hisfs)

23andMe name: i701112

ClinVar
Risk rs879255281(-;-)
Alt rs879255281(-;-)
Reference Rs879255281(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245130delT
CLNSRC
CLNACC RCV000239128.2,