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rs397509301

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509301(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43095900
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509301
dbSNP (classic)rs397509301
ClinGenrs397509301
ebirs397509301
HLIrs397509301
Exacrs397509301
Gnomadrs397509301
Varsomers397509301
LitVarrs397509301
Maprs397509301
PheGenIrs397509301
Biobankrs397509301
1000 genomesrs397509301
hgdprs397509301
ensemblrs397509301
geneviewrs397509301
scholarrs397509301
googlers397509301
pharmgkbrs397509301
gwascentralrs397509301
openSNPrs397509301
23andMers397509301
SNPshotrs397509301
SNPdbers397509301
MSV3drs397509301
GWAS Ctlgrs397509301
Max Magnitude6
ClinVar
Risk rs397509301(T;T)
Alt rs397509301(T;T)
Reference Rs397509301(C;C)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41247917G>A
CLNSRC ClinVar
CLNACC RCV000049071.2, RCV000218288.1,