Annotation Detail

Information
Associated Genes
MTNR1A
Associated Variants
MTNR1A MUTATION
MTNR1A MUTATION
BMAL1 c.1323-309C>T ( ENST00000403482.7, ENST00000673817.1, ENST00000401424.6, ENST00000389707.8, ENST00000403290.6, ENST00000403510.8 )
BMAL2 c.1477+176T>C ( ENST00000266503.10, ENST00000311001.9, ENST00000261178.9, ENST00000544915.5, ENST00000395901.6, ENST00000542388.1, ENST00000546179.5 )
PER3 c.645-450G>C ( ENST00000614998.4, ENST00000361923.2, ENST00000613533.4, ENST00000377541.5, ENST00000377532.8 )
TPTEP2-CSNK1E c.-12-9015T>C ( ENST00000400206.7 )
NPAS2 c.-22-15193T>C ( ENST00000335681.10 )
CLOCK c.*897G>A ( ENST00000309964.8, ENST00000513440.6 )
RORB c.127-165C>T ( ENST00000376896.8, ENST00000396204.2 )
RORB c.670+6497T>A ( ENST00000376896.8, ENST00000396204.2 )
BMAL1 c.1323-309C>T ( ENST00000389707.8, ENST00000401424.6, ENST00000403290.6, ENST00000403482.7, ENST00000403510.8, ENST00000673817.1 )
BMAL2 c.1477+176T>C ( ENST00000261178.9, ENST00000266503.10, ENST00000311001.9, ENST00000395901.6, ENST00000542388.1, ENST00000544915.5, ENST00000546179.5 )
PER3 c.645-450G>C ( ENST00000361923.2, ENST00000377532.8, ENST00000377541.5, ENST00000613533.4, ENST00000614998.4 )
TPTEP2-CSNK1E c.-12-9015T>C ( ENST00000400206.7 )
NPAS2 c.-22-15193T>C ( ENST00000335681.10 )
CLOCK c.*897G>A ( ENST00000309964.8, ENST00000513440.6 )
RORB c.127-165C>T ( ENST00000376896.8, ENST00000396204.2 )
RORB c.670+6497T>A ( ENST00000376896.8, ENST00000396204.2 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with carriage of variant alleles of SNPs in CLOCK (rs3749474), BMAL1 (rs2278749), BMAL2 (rs2306074), CSNK1E (rs5757037), NPAS2 (rs17024926), ROR-b (rs3903529, rs3750420), MTNR1A (rs131113549) and PER3 (rs1012477).
Pubmed
23822714
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00162865123248182
Year of publication
2013
Drugs