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rs786202040

From SNPedia

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


Make rs786202040(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position43057056
GeneBRCA1
is asnp
is mentioned by
dbSNPrs786202040
dbSNP (classic)rs786202040
ClinGenrs786202040
ebirs786202040
HLIrs786202040
Exacrs786202040
Gnomadrs786202040
Varsomers786202040
LitVarrs786202040
Maprs786202040
PheGenIrs786202040
Biobankrs786202040
1000 genomesrs786202040
hgdprs786202040
ensemblrs786202040
geneviewrs786202040
scholarrs786202040
googlers786202040
pharmgkbrs786202040
gwascentralrs786202040
openSNPrs786202040
23andMers786202040
SNPshotrs786202040
SNPdbers786202040
MSV3drs786202040
GWAS Ctlgrs786202040
Max Magnitude6

aka c.5269_5273delGACAG

ClinVar
Risk rs786202040(-;-)
Alt rs786202040(-;-)
Reference Rs786202040(GACAG;GACAG)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41209073_41209077delCTGTC
CLNSRC
CLNACC RCV000164650.1, RCV000241228.1,