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rs786202684

From SNPedia

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


Make rs786202684(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position43093130
GeneBRCA1
is asnp
is mentioned by
dbSNPrs786202684
dbSNP (classic)rs786202684
ClinGenrs786202684
ebirs786202684
HLIrs786202684
Exacrs786202684
Gnomadrs786202684
Varsomers786202684
LitVarrs786202684
Maprs786202684
PheGenIrs786202684
Biobankrs786202684
1000 genomesrs786202684
hgdprs786202684
ensemblrs786202684
geneviewrs786202684
scholarrs786202684
googlers786202684
pharmgkbrs786202684
gwascentralrs786202684
openSNPrs786202684
23andMers786202684
SNPshotrs786202684
SNPdbers786202684
MSV3drs786202684
GWAS Ctlgrs786202684
Max Magnitude6

aka c.787+1611_787+1614del

ClinVar
Risk rs786202684(-;-)
Alt rs786202684(-;-)
Reference Rs786202684(AAAT;AAAT)
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.41245147_41245150delATTT
CLNSRC
CLNACC RCV000165619.2, RCV000241511.1,