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rs8176318

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs8176318(G;T)
Make rs8176318(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045257
GeneBRCA1
is asnp
is mentioned by
dbSNPrs8176318
dbSNP (classic)rs8176318
ClinGenrs8176318
ebirs8176318
HLIrs8176318
Exacrs8176318
Gnomadrs8176318
Varsomers8176318
LitVarrs8176318
Maprs8176318
PheGenIrs8176318
Biobankrs8176318
1000 genomesrs8176318
hgdprs8176318
ensemblrs8176318
geneviewrs8176318
scholarrs8176318
googlers8176318
pharmgkbrs8176318
gwascentralrs8176318
openSNPrs8176318
23andMers8176318
SNPshotrs8176318
SNPdbers8176318
MSV3drs8176318
GWAS Ctlgrs8176318
GMAF0.2906
Max Magnitude0
? (G;G) (G;T) (T;T) 28


[PMID 21191178OA-icon.png] Rare BRCA1 haplotypes including 3'UTR SNPs associated with breast cancer risk


[PMID 17332845OA-icon.png] Meta-analysis in genome-wide association datasets: strategies and application in Parkinson disease.


[PMID 21161372OA-icon.png] Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.


[PMID 24915755OA-icon.png] A germline mutation in the BRCA1 3'UTR predicts Stage IV breast cancer


[PMID 26630397OA-icon.png] SNP Regulation of microRNA Expression and Subsequent Colon Cancer Risk.


ClinVar
Risk rs8176318(T;T)
Alt rs8176318(T;T)
Reference Rs8176318(G;G)
Significance Probable-non-pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41197274C>A
CLNSRC
CLNACC RCV000191177.1, RCV000372376.1,