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rs397507193

From SNPedia

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


Make rs397507193(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093677
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507193
dbSNP (classic)rs397507193
ClinGenrs397507193
ebirs397507193
HLIrs397507193
Exacrs397507193
Gnomadrs397507193
Varsomers397507193
LitVarrs397507193
Maprs397507193
PheGenIrs397507193
Biobankrs397507193
1000 genomesrs397507193
hgdprs397507193
ensemblrs397507193
geneviewrs397507193
scholarrs397507193
googlers397507193
pharmgkbrs397507193
gwascentralrs397507193
openSNPrs397507193
23andMers397507193
SNPshotrs397507193
SNPdbers397507193
MSV3drs397507193
GWAS Ctlgrs397507193
Max Magnitude6

BRCA1, c.1854delG (p.Arg618Serfs)

ClinVar
Risk rs397507193(-;-)
Alt rs397507193(-;-)
Reference Rs397507193(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245694delC
CLNSRC ClinVar
CLNACC RCV000031012.4,