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rs17337252

From SNPedia

Orientationplus
Stabilizedplus
Make rs17337252(A;A)
Make rs17337252(A;G)
Make rs17337252(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position52674146
GeneRB1CC1
is asnp
is mentioned by
dbSNPrs17337252
ebirs17337252
HLIrs17337252
Exacrs17337252
Varsomers17337252
Maprs17337252
PheGenIrs17337252
hapmaprs17337252
1000 genomesrs17337252
hgdprs17337252
ensemblrs17337252
gopubmedrs17337252
geneviewrs17337252
scholarrs17337252
googlers17337252
pharmgkbrs17337252
gwascentralrs17337252
openSNPrs17337252
23andMers17337252
23andMe allrs17337252
SNP Nexus

SNPshotrs17337252
SNPdbers17337252
MSV3drs17337252
GWAS Ctlgrs17337252
GMAF0.4527
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene RB1CC1
allele G
frequency 0.425
sift TOLERATED
HuRef 1103652319289
Disease Association Defects in RB1CC1 are probably involved in the tumorigenesis of breast cancer. 20% (7 of 35) of primary breast cancers examined contain mutations in RB1CC1, including nine large interstitial deletions predicted to yield markedly truncated RB1CC1 proteins. RB1CC1 is frequently mutated in breast cancer and shows characteristics of a classical tumor suppressor gene.



GET Evidence
RB1CC1-M234T
aa_change Met234Thr
aa_change_short M234T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.406302
summary