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rs4986854

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs4986854(C;C)
Make rs4986854(C;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position43071031
GeneBRCA1
is asnp
is mentioned by
dbSNPrs4986854
ebirs4986854
HLIrs4986854
Exacrs4986854
Varsomers4986854
Maprs4986854
PheGenIrs4986854
hapmaprs4986854
1000 genomesrs4986854
hgdprs4986854
ensemblrs4986854
gopubmedrs4986854
geneviewrs4986854
scholarrs4986854
googlers4986854
pharmgkbrs4986854
gwascentralrs4986854
openSNPrs4986854
23andMers4986854
23andMe allrs4986854
SNP Nexus

SNPshotrs4986854
SNPdbers4986854
MSV3drs4986854
GWAS Ctlgrs4986854
GMAF0.004132
Max Magnitude0
? (C;C) (C;T) (T;T) 28
ClinVar
Risk rs4986854(C;C)
Alt rs4986854(C;C)
Reference rs4986854(T;T)
Significance Probable-non-pathogenic
Disease not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Breast cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not specified Breast cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41223048A>G
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000034754.3, RCV000048683.6, RCV000112415.4, RCV000120263.2, RCV000148381.1, RCV000157737.1, RCV000162565.1,