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rs397509196

From SNPedia

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


Make rs397509196(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43071150
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509196
dbSNP (classic)rs397509196
ClinGenrs397509196
ebirs397509196
HLIrs397509196
Exacrs397509196
Gnomadrs397509196
Varsomers397509196
LitVarrs397509196
Maprs397509196
PheGenIrs397509196
Biobankrs397509196
1000 genomesrs397509196
hgdprs397509196
ensemblrs397509196
geneviewrs397509196
scholarrs397509196
googlers397509196
pharmgkbrs397509196
gwascentralrs397509196
openSNPrs397509196
23andMers397509196
SNPshotrs397509196
SNPdbers397509196
MSV3drs397509196
GWAS Ctlgrs397509196
Max Magnitude6

aka c.4764delT

ClinVar
Risk rs397509196(-;-)
Alt rs397509196(-;-)
Reference Rs397509196(T;T)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41223167delA
CLNSRC ClinVar
CLNACC RCV000048654.2,