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rs1799967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1799967(A;A)
Make rs1799967(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43070958
GeneBRCA1
is asnp
is mentioned by
dbSNPrs1799967
dbSNP (classic)rs1799967
ClinGenrs1799967
ebirs1799967
HLIrs1799967
Exacrs1799967
Gnomadrs1799967
Varsomers1799967
LitVarrs1799967
Maprs1799967
PheGenIrs1799967
Biobankrs1799967
1000 genomesrs1799967
hgdprs1799967
ensemblrs1799967
geneviewrs1799967
scholarrs1799967
googlers1799967
pharmgkbrs1799967
gwascentralrs1799967
openSNPrs1799967
23andMers1799967
SNPshotrs1799967
SNPdbers1799967
MSV3drs1799967
GWAS Ctlgrs1799967
GMAF0.009183
Max Magnitude0
? (A;A) (A;G) (G;G) 28


ClinVar
Risk rs1799967(A;A)
Alt rs1799967(A;A)
Reference Rs1799967(G;G)
Significance Other
Disease not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not specified Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41222975C>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein)
CLNACC RCV000034756.3, RCV000048709.8, RCV000112434.5, RCV000120261.4, RCV000128916.4, RCV000476093.1,