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rs1053266

From SNPedia

Orientationminus
Stabilizedminus
Make rs1053266(A;A)
Make rs1053266(A;C)
Make rs1053266(C;C)
ReferenceGRCh38 38.1/142
Chromosome10
Position59792934
GeneCCDC6
is asnp
is mentioned by
dbSNPrs1053266
ebirs1053266
HLIrs1053266
Exacrs1053266
Varsomers1053266
Maprs1053266
PheGenIrs1053266
hapmaprs1053266
1000 genomesrs1053266
hgdprs1053266
ensemblrs1053266
gopubmedrs1053266
geneviewrs1053266
scholarrs1053266
googlers1053266
pharmgkbrs1053266
gwascentralrs1053266
openSNPrs1053266
23andMers1053266
23andMe allrs1053266
SNP Nexus

SNPshotrs1053266
SNPdbers1053266
MSV3drs1053266
GWAS Ctlgrs1053266
GMAF0.4587
Max Magnitude
? (A;A) (A;C) (C;C) 28
Venter snp
Source plos
Gene CCDC6
allele T
frequency
sift
HuRef 1103649952977
Disease Association A chromosomal aberration involving CCDC6 is a cause of thyroid papillary carcinoma (PACT) (MIM:188550). Inversion inv(10)(q11.2;q21) generates the RET/CCDC6 (PTC1) oncogene.



[PMID 16385451OA-icon.png] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.


GET Evidence
CCDC6-P470T
aa_change Pro470Thr
aa_change_short P470T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.420896
summary