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rs730880288

From SNPedia

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


Make rs730880288(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43063893
GeneBRCA1
is asnp
is mentioned by
dbSNPrs730880288
dbSNP (classic)rs730880288
ClinGenrs730880288
ebirs730880288
HLIrs730880288
Exacrs730880288
Gnomadrs730880288
Varsomers730880288
LitVarrs730880288
Maprs730880288
PheGenIrs730880288
Biobankrs730880288
1000 genomesrs730880288
hgdprs730880288
ensemblrs730880288
geneviewrs730880288
scholarrs730880288
googlers730880288
pharmgkbrs730880288
gwascentralrs730880288
openSNPrs730880288
23andMers730880288
SNPshotrs730880288
SNPdbers730880288
MSV3drs730880288
GWAS Ctlgrs730880288
Max Magnitude6

BRCA1, c.5133delA (p.Lys1711Asnfs)

ClinVar
Risk rs730880288(-;-)
Alt rs730880288(-;-)
Reference Rs730880288(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.41215910delT
CLNSRC
CLNACC RCV000157653.2,