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rs483353093

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CT) 6 BRCA1 variant considered pathogenic for breast cancer
(-;TC) 6 BRCA1 variant considered pathogenic for breast cancer
(TC;TC) 0 common in clinvar
Make rs483353093(-;-)
Make rs483353093(CT;CT)
ReferenceGRCh38 38.1/142
Chromosome17
Position43104262
GeneBRCA1
is asnp
is mentioned by
dbSNPrs483353093
dbSNP (classic)rs483353093
ClinGenrs483353093
ebirs483353093
HLIrs483353093
Exacrs483353093
Gnomadrs483353093
Varsomers483353093
LitVarrs483353093
Maprs483353093
PheGenIrs483353093
Biobankrs483353093
1000 genomesrs483353093
hgdprs483353093
ensemblrs483353093
geneviewrs483353093
scholarrs483353093
googlers483353093
pharmgkbrs483353093
gwascentralrs483353093
openSNPrs483353093
23andMers483353093
SNPshotrs483353093
SNPdbers483353093
MSV3drs483353093
GWAS Ctlgrs483353093
Max Magnitude6

BRCA1, c.302-2_302-1del

ClinVar
Risk rs483353093(-;-)
Alt rs483353093(-;-)
Reference Rs483353093(TC;TC)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 0
HGVS NC_000017.10:g.41256279_41256280delCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112249.1,