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rs397509072

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509072(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092059
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509072
dbSNP (classic)rs397509072
ClinGenrs397509072
ebirs397509072
HLIrs397509072
Exacrs397509072
Gnomadrs397509072
Varsomers397509072
LitVarrs397509072
Maprs397509072
PheGenIrs397509072
Biobankrs397509072
1000 genomesrs397509072
hgdprs397509072
ensemblrs397509072
geneviewrs397509072
scholarrs397509072
googlers397509072
pharmgkbrs397509072
gwascentralrs397509072
openSNPrs397509072
23andMers397509072
SNPshotrs397509072
SNPdbers397509072
MSV3drs397509072
GWAS Ctlgrs397509072
Max Magnitude6
ClinVar
Risk rs397509072(T;T)
Alt rs397509072(T;T)
Reference Rs397509072(G;G)
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.41244076C>A
CLNSRC ClinVar
CLNACC RCV000048207.2, RCV000241270.1,