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rs397508951

From SNPedia

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


Make rs397508951(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093316
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508951
dbSNP (classic)rs397508951
ClinGenrs397508951
ebirs397508951
HLIrs397508951
Exacrs397508951
Gnomadrs397508951
Varsomers397508951
LitVarrs397508951
Maprs397508951
PheGenIrs397508951
Biobankrs397508951
1000 genomesrs397508951
hgdprs397508951
ensemblrs397508951
geneviewrs397508951
scholarrs397508951
googlers397508951
pharmgkbrs397508951
gwascentralrs397508951
openSNPrs397508951
23andMers397508951
SNPshotrs397508951
SNPdbers397508951
MSV3drs397508951
GWAS Ctlgrs397508951
Max Magnitude6
ClinVar
Risk rs397508951(-;-)
Alt rs397508951(-;-)
Reference Rs397508951(GTTA;GTTA)
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.41245333_41245336delTAAC
CLNSRC ClinVar
CLNACC RCV000047762.2, RCV000257649.2,