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rs397509018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509018(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092682
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509018
dbSNP (classic)rs397509018
ClinGenrs397509018
ebirs397509018
HLIrs397509018
Exacrs397509018
Gnomadrs397509018
Varsomers397509018
LitVarrs397509018
Maprs397509018
PheGenIrs397509018
Biobankrs397509018
1000 genomesrs397509018
hgdprs397509018
ensemblrs397509018
geneviewrs397509018
scholarrs397509018
googlers397509018
pharmgkbrs397509018
gwascentralrs397509018
openSNPrs397509018
23andMers397509018
SNPshotrs397509018
SNPdbers397509018
MSV3drs397509018
GWAS Ctlgrs397509018
Max Magnitude6

aka c.788-1651dup

ClinVar
Risk rs397509018(T;T)
Alt rs397509018(T;T)
Reference Rs397509018(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244700dupA
CLNSRC ClinVar
CLNACC RCV000047990.2,