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rs869025213

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;AA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs869025213(AA;AA)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position43074357
GeneBRCA1
is asnp
is mentioned by
dbSNPrs869025213
dbSNP (classic)rs869025213
ClinGenrs869025213
ebirs869025213
HLIrs869025213
Exacrs869025213
Gnomadrs869025213
Varsomers869025213
LitVarrs869025213
Maprs869025213
PheGenIrs869025213
Biobankrs869025213
1000 genomesrs869025213
hgdprs869025213
ensemblrs869025213
geneviewrs869025213
scholarrs869025213
googlers869025213
pharmgkbrs869025213
gwascentralrs869025213
openSNPrs869025213
23andMers869025213
SNPshotrs869025213
SNPdbers869025213
MSV3drs869025213
GWAS Ctlgrs869025213
Max Magnitude6

aka c.4647_4648dup

ClinVar
Risk rs869025213(AA;AA)
Alt rs869025213(AA;AA)
Reference Rs869025213(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41226375_41226376dupTT
CLNSRC
CLNACC RCV000208006.1,