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rs730882167

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar
(A;TTT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs730882167(TTT;TTT)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43063359
GeneBRCA1
is asnp
is mentioned by
dbSNPrs730882167
dbSNP (classic)rs730882167
ClinGenrs730882167
ebirs730882167
HLIrs730882167
Exacrs730882167
Gnomadrs730882167
Varsomers730882167
LitVarrs730882167
Maprs730882167
PheGenIrs730882167
Biobankrs730882167
1000 genomesrs730882167
hgdprs730882167
ensemblrs730882167
geneviewrs730882167
scholarrs730882167
googlers730882167
pharmgkbrs730882167
gwascentralrs730882167
openSNPrs730882167
23andMers730882167
SNPshotrs730882167
SNPdbers730882167
MSV3drs730882167
GWAS Ctlgrs730882167
Max Magnitude6
ClinVar
Risk rs730882167(TTT;TTT)
Alt rs730882167(TTT;TTT)
Reference Rs730882167(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.41215376delTinsAAA
CLNSRC
CLNACC RCV000162049.2,