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rs397509043

From SNPedia

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


Make rs397509043(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092367
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509043
dbSNP (classic)rs397509043
ClinGenrs397509043
ebirs397509043
HLIrs397509043
Exacrs397509043
Gnomadrs397509043
Varsomers397509043
LitVarrs397509043
Maprs397509043
PheGenIrs397509043
Biobankrs397509043
1000 genomesrs397509043
hgdprs397509043
ensemblrs397509043
geneviewrs397509043
scholarrs397509043
googlers397509043
pharmgkbrs397509043
gwascentralrs397509043
openSNPrs397509043
23andMers397509043
SNPshotrs397509043
SNPdbers397509043
MSV3drs397509043
GWAS Ctlgrs397509043
Max Magnitude6

aka c.788-1335del

ClinVar
Risk rs397509043(-;-)
Alt rs397509043(-;-)
Reference Rs397509043(G;G)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244384delC
CLNSRC ClinVar
CLNACC RCV000048088.2,