Annotation Detail

Information
Associated Genes
DNMT1
Associated Variants
DNMT1 p.Ile327Phe (p.I327F) ( ENST00000340748.8, ENST00000359526.9, ENST00000676610.1, ENST00000677946.1, ENST00000678804.1, ENST00000679103.1, ENST00000679313.1 )
DNMT1 p.Ile327Val (p.I327V) ( ENST00000340748.8, ENST00000359526.9, ENST00000676610.1, ENST00000677946.1, ENST00000678804.1, ENST00000679103.1, ENST00000679313.1 )
DNMT1 p.Ile327Leu (p.I327L) ( ENST00000340748.8, ENST00000359526.9, ENST00000676610.1, ENST00000677946.1, ENST00000678804.1, ENST00000679103.1, ENST00000679313.1 )
DNMT1 p.Ile327Phe (p.I327F) ( ENST00000340748.8, ENST00000359526.9, ENST00000676610.1, ENST00000677946.1, ENST00000678804.1, ENST00000679103.1, ENST00000679313.1 )
DNMT1 p.Ile327Val (p.I327V) ( ENST00000340748.8, ENST00000359526.9, ENST00000676610.1, ENST00000677946.1, ENST00000678804.1, ENST00000679103.1, ENST00000679313.1 )
DNMT1 p.Ile327Leu (p.I327L) ( ENST00000340748.8, ENST00000359526.9, ENST00000676610.1, ENST00000677946.1, ENST00000678804.1, ENST00000679103.1, ENST00000679313.1 )
Associated Disease
Malignant neoplasm of esophagus
Source Database
DisGeNET
Description
There was an inverse association between DNMT1 rs2228612 and esophageal cancer (any G versus A/A, SBOR: 0.60, 95% posterior limits: 0.39, 0.94).
Pubmed
25337902
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs