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rs786204264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs786204264(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position43093232
GeneBRCA1
is asnp
is mentioned by
dbSNPrs786204264
dbSNP (classic)rs786204264
ClinGenrs786204264
ebirs786204264
HLIrs786204264
Exacrs786204264
Gnomadrs786204264
Varsomers786204264
LitVarrs786204264
Maprs786204264
PheGenIrs786204264
Biobankrs786204264
1000 genomesrs786204264
hgdprs786204264
ensemblrs786204264
geneviewrs786204264
scholarrs786204264
googlers786204264
pharmgkbrs786204264
gwascentralrs786204264
openSNPrs786204264
23andMers786204264
SNPshotrs786204264
SNPdbers786204264
MSV3drs786204264
GWAS Ctlgrs786204264
Max Magnitude6

aka c.787+1511dup

ClinVar
Risk rs786204264(T;T)
Alt rs786204264(T;T)
Reference Rs786204264(-;-)
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.41245250dupA
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000168495.4, RCV000257900.2,