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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
ebirs1799966
HLIrs1799966
Exacrs1799966
Varsomers1799966
Maprs1799966
PheGenIrs1799966
hapmaprs1799966
1000 genomesrs1799966
hgdprs1799966
ensemblrs1799966
gopubmedrs1799966
geneviewrs1799966
scholarrs1799966
googlers1799966
pharmgkbrs1799966
gwascentralrs1799966
openSNPrs1799966
23andMers1799966
23andMe allrs1799966
SNP Nexus

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,T;G,T)
Alt rs1799966(G,T;G,T)
Reference rs1799966(A;A)
Significance Other
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided not specified
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided not specified
Reversed 1
HGVS NC_000017.10:g.41223094T>A; NC_000017.10:g.41223094T>C
CLNSRC Inc. Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation HGMD
CLNACC RCV000031194.5, RCV000048673.4, RCV000130704.2, RCV000167795.2, RCV000034753.3, RCV000048672.5, RCV000112410.5, RCV000119096.2, RCV000120260.4, RCV000128996.3,



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


GET Evidence
BRCA1-S1634G
aa_change Ser1634Gly
aa_change_short S1634G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.297732
summary