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rs1799966

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 1.1 very slightly increased breast cancer risk
(G;G) 2 very slightly increased risk for breast cancer
ReferenceGRCh38 38.1/141
Chromosome17
Position43071077
GeneBRCA1
is asnp
is mentioned by
dbSNPrs1799966
dbSNP (classic)rs1799966
ClinGenrs1799966
ebirs1799966
HLIrs1799966
Exacrs1799966
Gnomadrs1799966
Varsomers1799966
LitVarrs1799966
Maprs1799966
PheGenIrs1799966
Biobankrs1799966
1000 genomesrs1799966
hgdprs1799966
ensemblrs1799966
geneviewrs1799966
scholarrs1799966
googlers1799966
pharmgkbrs1799966
gwascentralrs1799966
openSNPrs1799966
23andMers1799966
SNPshotrs1799966
SNPdbers1799966
MSV3drs1799966
GWAS Ctlgrs1799966
GMAF0.3274
Max Magnitude2
? (A;A) (A;G) (G;G) 28


This SNP, a variant in the BRCA1 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

For this particular SNP, the risk (minor) allele is (G).


ClinVar
Risk Rs1799966(G;G) rs1799966(T;T)
Alt Rs1799966(G;G) rs1799966(T;T)
Reference Rs1799966(A;A)
Significance Other
Disease Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not specified Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41223094T>A; NC_000017.10:g.41223094T>C
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation HGMD UniProtKB (protein)
CLNACC RCV000031194.5, RCV000048673.5, RCV000130704.3, RCV000167795.3, RCV000034753.3, RCV000048672.6, RCV000112410.5, RCV000119096.4, RCV000120260.6, RCV000128996.3,



[PMID 18559551OA-icon.png] Pathway analysis of single-nucleotide polymorphisms potentially associated with glioblastoma multiforme susceptibility using random forests.


[PMID 32606887OA-icon.png] The Impact of the Genetic Polymorphism in DNA Repair Pathways on Increased Risk of Glioblastoma Multiforme in the Arab Jordanian Population: A Case-Control Study.