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rs431825410

From SNPedia

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


Make rs431825410(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067652
GeneBRCA1
is asnp
is mentioned by
dbSNPrs431825410
dbSNP (classic)rs431825410
ClinGenrs431825410
ebirs431825410
HLIrs431825410
Exacrs431825410
Gnomadrs431825410
Varsomers431825410
LitVarrs431825410
Maprs431825410
PheGenIrs431825410
Biobankrs431825410
1000 genomesrs431825410
hgdprs431825410
ensemblrs431825410
geneviewrs431825410
scholarrs431825410
googlers431825410
pharmgkbrs431825410
gwascentralrs431825410
openSNPrs431825410
23andMers431825410
SNPshotrs431825410
SNPdbers431825410
MSV3drs431825410
GWAS Ctlgrs431825410
Merged fromRs886038039
Max Magnitude6

BRCA1, c.5026_5030delTTAAC (p.Leu1676Terfs)

Note: ClinVar entry may not be current.


ClinVar
Risk Rs431825410(TAACT;TAACT) rs431825410(-;-)
Alt Rs431825410(TAACT;TAACT) rs431825410(-;-)
Reference Rs431825410(TTAAC;TTAAC)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41219668_41219672delAGTTA
CLNSRC ClinVar
CLNACC RCV000241367.2,