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rs730881461

From SNPedia

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


Make rs730881461(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43092586
GeneBRCA1
is asnp
is mentioned by
dbSNPrs730881461
dbSNP (classic)rs730881461
ClinGenrs730881461
ebirs730881461
HLIrs730881461
Exacrs730881461
Gnomadrs730881461
Varsomers730881461
LitVarrs730881461
Maprs730881461
PheGenIrs730881461
Biobankrs730881461
1000 genomesrs730881461
hgdprs730881461
ensemblrs730881461
geneviewrs730881461
scholarrs730881461
googlers730881461
pharmgkbrs730881461
gwascentralrs730881461
openSNPrs730881461
23andMers730881461
SNPshotrs730881461
SNPdbers730881461
MSV3drs730881461
GWAS Ctlgrs730881461
Max Magnitude6

BRCA1, c.2945delC (p.Pro982Hisfs)

ClinVar
Risk rs730881461(-;-)
Alt rs730881461(-;-)
Reference Rs730881461(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244603delG
CLNSRC
CLNACC RCV000159909.1, RCV000241071.1,