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rs863224510

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs863224510(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position43093487
GeneBRCA1
is asnp
is mentioned by
dbSNPrs863224510
dbSNP (classic)rs863224510
ClinGenrs863224510
ebirs863224510
HLIrs863224510
Exacrs863224510
Gnomadrs863224510
Varsomers863224510
LitVarrs863224510
Maprs863224510
PheGenIrs863224510
Biobankrs863224510
1000 genomesrs863224510
hgdprs863224510
ensemblrs863224510
geneviewrs863224510
scholarrs863224510
googlers863224510
pharmgkbrs863224510
gwascentralrs863224510
openSNPrs863224510
23andMers863224510
SNPshotrs863224510
SNPdbers863224510
MSV3drs863224510
GWAS Ctlgrs863224510
Max Magnitude6

aka c.2043dupT (p.Asn682Terfs)

ClinVar
Risk rs863224510(T;T)
Alt rs863224510(T;T)
Reference Rs863224510(-;-)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245505dupA
CLNSRC
CLNACC RCV000198736.2, RCV000238610.3,