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

rs397507194

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397507194(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093609
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507194
dbSNP (classic)rs397507194
ClinGenrs397507194
ebirs397507194
HLIrs397507194
Exacrs397507194
Gnomadrs397507194
Varsomers397507194
LitVarrs397507194
Maprs397507194
PheGenIrs397507194
Biobankrs397507194
1000 genomesrs397507194
hgdprs397507194
ensemblrs397507194
geneviewrs397507194
scholarrs397507194
googlers397507194
pharmgkbrs397507194
gwascentralrs397507194
openSNPrs397507194
23andMers397507194
SNPshotrs397507194
SNPdbers397507194
MSV3drs397507194
GWAS Ctlgrs397507194
Max Magnitude6
ClinVar
Risk rs397507194(A;A)
Alt rs397507194(A;A)
Reference Rs397507194(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245627dupT
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031015.5, RCV000129268.3,