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rs273901744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273901744(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43063870
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273901744
dbSNP (classic)rs273901744
ClinGenrs273901744
ebirs273901744
HLIrs273901744
Exacrs273901744
Gnomadrs273901744
Varsomers273901744
LitVarrs273901744
Maprs273901744
PheGenIrs273901744
Biobankrs273901744
1000 genomesrs273901744
hgdprs273901744
ensemblrs273901744
geneviewrs273901744
scholarrs273901744
googlers273901744
pharmgkbrs273901744
gwascentralrs273901744
openSNPrs273901744
23andMers273901744
SNPshotrs273901744
SNPdbers273901744
MSV3drs273901744
GWAS Ctlgrs273901744
Max Magnitude6
ClinVar
Risk rs273901744(T;T)
Alt rs273901744(T;T)
Reference Rs273901744(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41215887_41215888insA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112518.1,