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rs786203982

From SNPedia

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


Make rs786203982(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position43094054
GeneBRCA1
is asnp
is mentioned by
dbSNPrs786203982
dbSNP (classic)rs786203982
ClinGenrs786203982
ebirs786203982
HLIrs786203982
Exacrs786203982
Gnomadrs786203982
Varsomers786203982
LitVarrs786203982
Maprs786203982
PheGenIrs786203982
Biobankrs786203982
1000 genomesrs786203982
hgdprs786203982
ensemblrs786203982
geneviewrs786203982
scholarrs786203982
googlers786203982
pharmgkbrs786203982
gwascentralrs786203982
openSNPrs786203982
23andMers786203982
SNPshotrs786203982
SNPdbers786203982
MSV3drs786203982
GWAS Ctlgrs786203982
Max Magnitude6
ClinVar
Risk rs786203982(-;-)
Alt rs786203982(-;-)
Reference Rs786203982(A;A)
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.41246071delT
CLNSRC
CLNACC RCV000167520.1, RCV000241237.1,