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rs16942

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 2 very slightly increased breast cancer risk
(G;G) 2 very slightly increased breast cancer risk
ReferenceGRCh38 38.1/141
Chromosome17
Position43091983
GeneBRCA1
is asnp
is mentioned by
dbSNPrs16942
dbSNP (classic)rs16942
ClinGenrs16942
ebirs16942
HLIrs16942
Exacrs16942
Gnomadrs16942
Varsomers16942
LitVarrs16942
Maprs16942
PheGenIrs16942
Biobankrs16942
1000 genomesrs16942
hgdprs16942
ensemblrs16942
geneviewrs16942
scholarrs16942
googlers16942
pharmgkbrs16942
gwascentralrs16942
openSNPrs16942
23andMers16942
SNPshotrs16942
SNPdbers16942
MSV3drs16942
GWAS Ctlgrs16942
GMAF0.3242
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 this particular SNP, the risk (minor) allele is (G).

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 or BRCA1 and BRCA2.




[PMID 21890493OA-icon.png] Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers


ClinVar
Risk Rs16942(G;G)
Alt Rs16942(G;G)
Reference Rs16942(A;A)
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.41244000T>C
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation HGMD UniProtKB (protein)
CLNACC RCV000034742.3, RCV000048229.6, RCV000112115.5, RCV000120278.6, RCV000128991.4, RCV000460753.1,



[PMID 19644020OA-icon.png] Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.



[PMID 23313170OA-icon.png] Analysis of single nucleotide polymorphisms and radiation sensitivity of the lung assessed with an objective radiologic endpoin.