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rs398122674

From SNPedia

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


Make rs398122674(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091931
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122674
dbSNP (classic)rs398122674
ClinGenrs398122674
ebirs398122674
HLIrs398122674
Exacrs398122674
Gnomadrs398122674
Varsomers398122674
LitVarrs398122674
Maprs398122674
PheGenIrs398122674
Biobankrs398122674
1000 genomesrs398122674
hgdprs398122674
ensemblrs398122674
geneviewrs398122674
scholarrs398122674
googlers398122674
pharmgkbrs398122674
gwascentralrs398122674
openSNPrs398122674
23andMers398122674
SNPshotrs398122674
SNPdbers398122674
MSV3drs398122674
GWAS Ctlgrs398122674
Max Magnitude6

aka c.788-900_788-899del

ClinVar
Risk rs398122674(-;-)
Alt rs398122674(-;-)
Reference Rs398122674(AG;AG)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243948_41243949delCT
CLNSRC ClinVar
CLNACC RCV000077126.3,