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rs431825384

From SNPedia

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


Make rs431825384(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094382
GeneBRCA1
is asnp
is mentioned by
dbSNPrs431825384
dbSNP (classic)rs431825384
ClinGenrs431825384
ebirs431825384
HLIrs431825384
Exacrs431825384
Gnomadrs431825384
Varsomers431825384
LitVarrs431825384
Maprs431825384
PheGenIrs431825384
Biobankrs431825384
1000 genomesrs431825384
hgdprs431825384
ensemblrs431825384
geneviewrs431825384
scholarrs431825384
googlers431825384
pharmgkbrs431825384
gwascentralrs431825384
openSNPrs431825384
23andMers431825384
SNPshotrs431825384
SNPdbers431825384
MSV3drs431825384
GWAS Ctlgrs431825384
Max Magnitude6

BRCA1, c.1148_1149delAT (p.Asn383Argfs)

ClinVar
Risk rs431825384(-;-)
Alt rs431825384(-;-)
Reference Rs431825384(AT;AT)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246399_41246400delAT
CLNSRC ClinVar
CLNACC RCV000083016.4,