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rs730881468

From SNPedia

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


Make rs730881468(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43094662
GeneBRCA1
is asnp
is mentioned by
dbSNPrs730881468
dbSNP (classic)rs730881468
ClinGenrs730881468
ebirs730881468
HLIrs730881468
Exacrs730881468
Gnomadrs730881468
Varsomers730881468
LitVarrs730881468
Maprs730881468
PheGenIrs730881468
Biobankrs730881468
1000 genomesrs730881468
hgdprs730881468
ensemblrs730881468
geneviewrs730881468
scholarrs730881468
googlers730881468
pharmgkbrs730881468
gwascentralrs730881468
openSNPrs730881468
23andMers730881468
SNPshotrs730881468
SNPdbers730881468
MSV3drs730881468
GWAS Ctlgrs730881468
Max Magnitude6
ClinVar
Risk rs730881468(A;A) rs730881468(G;G)
Alt rs730881468(A;A) rs730881468(G;G)
Reference Rs730881468(T;T)
Significance Pathogenic
Disease not provided Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN not provided Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246679A>C; NC_000017.10:g.41246679A>T
CLNSRC
CLNACC RCV000159946.1, RCV000241503.1, RCV000410713.1,