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rs730881440

From SNPedia

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


Make rs730881440(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43091763
GeneBRCA1
is asnp
is mentioned by
dbSNPrs730881440
dbSNP (classic)rs730881440
ClinGenrs730881440
ebirs730881440
HLIrs730881440
Exacrs730881440
Gnomadrs730881440
Varsomers730881440
LitVarrs730881440
Maprs730881440
PheGenIrs730881440
Biobankrs730881440
1000 genomesrs730881440
hgdprs730881440
ensemblrs730881440
geneviewrs730881440
scholarrs730881440
googlers730881440
pharmgkbrs730881440
gwascentralrs730881440
openSNPrs730881440
23andMers730881440
SNPshotrs730881440
SNPdbers730881440
MSV3drs730881440
GWAS Ctlgrs730881440
Max Magnitude6

aka c.788-732_788-731del

ClinVar
Risk rs730881440(-;-)
Alt rs730881440(-;-)
Reference Rs730881440(CA;CA)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243780_41243781delTG
CLNSRC
CLNACC RCV000159844.1, RCV000221128.1, RCV000225507.2,