Rs16942

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 2 increased risk for breast cancer
Make rs16942(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091983
GeneBRCA1
is asnp
is mentioned by
dbSNPrs16942
Exacrs16942
PheGenIrs16942
nextbiors16942
hapmaprs16942
1000 genomesrs16942
hgdprs16942
ensemblrs16942
gopubmedrs16942
geneviewrs16942
scholarrs16942
googlers16942
pharmgkbrs16942
gwascentralrs16942
openSNPrs16942
23andMers16942
23andMe allrs16942
SNP Nexus

SNPshotrs16942
SNPdbers16942
MSV3drs16942
GMAF0.3242
? (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.

Neighborrs2227945
Distance130


Venter snp
Source plos
Gene BRCA1
allele C
frequency 0.356
sift TOLERATED
HuRef 1103645327477
Disease Association Defects in BRCA1 are a cause of genetic susceptibility to ovarian cancer (MIM:113705).



[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 Non-pathogenic
Disease not provided Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN not provided Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244000T>C
CLNSRC
CLNACC RCV000034742.1, RCV000048229.2,



[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.


GET Evidence
BRCA1-K1183R
aa_change Lys1183Arg
aa_change_short K1183R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.294664
summary



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