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rs398122682

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;TT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs398122682(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091012
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122682
dbSNP (classic)rs398122682
ClinGenrs398122682
ebirs398122682
HLIrs398122682
Exacrs398122682
Gnomadrs398122682
Varsomers398122682
LitVarrs398122682
Maprs398122682
PheGenIrs398122682
Biobankrs398122682
1000 genomesrs398122682
hgdprs398122682
ensemblrs398122682
geneviewrs398122682
scholarrs398122682
googlers398122682
pharmgkbrs398122682
gwascentralrs398122682
openSNPrs398122682
23andMers398122682
SNPshotrs398122682
SNPdbers398122682
MSV3drs398122682
GWAS Ctlgrs398122682
Max Magnitude6
ClinVar
Risk rs398122682(TT;TT)
Alt rs398122682(TT;TT)
Reference Rs398122682(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41243029_41243030insAA
CLNSRC ClinVar
CLNACC RCV000077141.2, RCV000484969.1,