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rs397508867

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508867(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094140
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508867
dbSNP (classic)rs397508867
ClinGenrs397508867
ebirs397508867
HLIrs397508867
Exacrs397508867
Gnomadrs397508867
Varsomers397508867
LitVarrs397508867
Maprs397508867
PheGenIrs397508867
Biobankrs397508867
1000 genomesrs397508867
hgdprs397508867
ensemblrs397508867
geneviewrs397508867
scholarrs397508867
googlers397508867
pharmgkbrs397508867
gwascentralrs397508867
openSNPrs397508867
23andMers397508867
SNPshotrs397508867
SNPdbers397508867
MSV3drs397508867
GWAS Ctlgrs397508867
Max Magnitude6

aka c.1390_1391insG

ClinVar
Risk rs397508867(A;A) rs397508867(G;G)
Alt rs397508867(A;A) rs397508867(G;G)
Reference Rs397508867(-;-)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246157_41246158insC; NC_000017.10:g.41246158dupT
CLNSRC ClinVar
CLNACC RCV000047456.2, RCV000257722.2,