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rs431825386

From SNPedia

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


Make rs431825386(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094097
GeneBRCA1
is asnp
is mentioned by
dbSNPrs431825386
dbSNP (classic)rs431825386
ClinGenrs431825386
ebirs431825386
HLIrs431825386
Exacrs431825386
Gnomadrs431825386
Varsomers431825386
LitVarrs431825386
Maprs431825386
PheGenIrs431825386
Biobankrs431825386
1000 genomesrs431825386
hgdprs431825386
ensemblrs431825386
geneviewrs431825386
scholarrs431825386
googlers431825386
pharmgkbrs431825386
gwascentralrs431825386
openSNPrs431825386
23andMers431825386
SNPshotrs431825386
SNPdbers431825386
MSV3drs431825386
GWAS Ctlgrs431825386
Max Magnitude6

BRCA1, c.1434delT (p.Glu479Lysfs)

ClinVar
Risk rs431825386(-;-)
Alt rs431825386(-;-)
Reference Rs431825386(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246114delA
CLNSRC ClinVar
CLNACC RCV000083021.3,