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rs786204262

From SNPedia

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


Make rs786204262(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position43094543
GeneBRCA1
is asnp
is mentioned by
dbSNPrs786204262
dbSNP (classic)rs786204262
ClinGenrs786204262
ebirs786204262
HLIrs786204262
Exacrs786204262
Gnomadrs786204262
Varsomers786204262
LitVarrs786204262
Maprs786204262
PheGenIrs786204262
Biobankrs786204262
1000 genomesrs786204262
hgdprs786204262
ensemblrs786204262
geneviewrs786204262
scholarrs786204262
googlers786204262
pharmgkbrs786204262
gwascentralrs786204262
openSNPrs786204262
23andMers786204262
SNPshotrs786204262
SNPdbers786204262
MSV3drs786204262
GWAS Ctlgrs786204262
Max Magnitude6

aka c.787+197_787+201del

ClinVar
Risk rs786204262(-;-)
Alt rs786204262(-;-)
Reference Rs786204262(TAATG;TAATG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41246560_41246564delCATTA
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000168490.4, RCV000257897.2,