Annotation Detail

Information
Associated Genes
MIR1206
Associated Variants
MIR1206 SNV
rs11614913
DICER1 c.*2693A>G ( ENST00000526495.6, ENST00000531162.7, ENST00000674628.2, ENST00000343455.8, ENST00000529720.2 )
CNOT1 p.Gln973= (p.Q973=) ( ENST00000441024.6, ENST00000317147.10, ENST00000569240.5 )
TNRC6B V16M ( ENST00000301923.13, ENST00000402203.5 )
DROSHA c.2574+1366C>T ( ENST00000344624.8, ENST00000511367.6, ENST00000513349.5 )
C5orf22 c.81+58G>C ( ENST00000325366.14 )
SND1 c.1779+5849C>T ( ENST00000354725.8 )
rs2114358
MIR1206 SNV
rs11614913
DICER1 c.*2693A>G ( ENST00000343455.8, ENST00000526495.6, ENST00000529720.2, ENST00000531162.7, ENST00000674628.2 )
CNOT1 p.Gln973= (p.Q973=) ( ENST00000317147.10, ENST00000441024.6, ENST00000569240.5 )
TNRC6B V16M ( ENST00000301923.13, ENST00000402203.5 )
DROSHA c.2574+1366C>T ( ENST00000344624.8, ENST00000511367.6, ENST00000513349.5 )
C5orf22 c.81+58G>C ( ENST00000325366.14 )
SND1 c.1779+5849C>T ( ENST00000354725.8 )
rs2114358
Associated Disease
chronic lymphocytic leukemia
Source Database
DisGeNET
Description
We found nine statistically significant associations with CLL risk after FDR correction, seven in miRNA processing genes (rs3805500 and rs6877842 in DROSHA, rs1057035 in DICER1, rs17676986 in SND1, rs9611280 in TNRC6B, rs784567 in TRBP and rs11866002 in CNOT1) and two in pre-miRNAs (rs11614913 in miR196a2 and rs2114358 in miR1206).
Pubmed
25793711
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2015
Drugs