Have questions? Visit https://www.reddit.com/r/SNPedia

rs397509109

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509109(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091716
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509109
dbSNP (classic)rs397509109
ClinGenrs397509109
ebirs397509109
HLIrs397509109
Exacrs397509109
Gnomadrs397509109
Varsomers397509109
LitVarrs397509109
Maprs397509109
PheGenIrs397509109
Biobankrs397509109
1000 genomesrs397509109
hgdprs397509109
ensemblrs397509109
geneviewrs397509109
scholarrs397509109
googlers397509109
pharmgkbrs397509109
gwascentralrs397509109
openSNPrs397509109
23andMers397509109
SNPshotrs397509109
SNPdbers397509109
MSV3drs397509109
GWAS Ctlgrs397509109
Max Magnitude6

aka c.3814_3815insT (p.Asn1272Ilefs)

ClinVar
Risk rs397509109(T;T)
Alt rs397509109(T;T)
Reference Rs397509109(-;-)
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.41243733_41243734insA
CLNSRC ClinVar
CLNACC RCV000048341.2, RCV000257423.2,