SETD1A SET domain containing 1A, histone lysine methyltransferase

Genome build
GRCh37 / hg19
Ensembl gene ID
ENSG00000099381
References
gnomAD, Ensembl, UCSC Browser,
Other studies
ASC, BipEx, Epi25

Gene Result

ClassConsequenceCasesControlsOdds RatioCase/Control P-valueDe NovosDe Novo P-value
PTV15310.33.60e-730.0000145
Missense (MPC ≥ 3)34
Missense (3 > MPC ≥ 2)11104.420.000588

Meta-analysis P-value: 2.00e-12

Meta-analysis Q-value: 3.62e-8

Constraint

CategoryExp. SNVsObs. SNVsConstraint metrics
Synonymous464.2579Z = -4.19o/e = 1.25
Missense1092.3922Z = 1.83o/e = 0.84
pLoF67.24pLI = 1o/e = 0.06
Loading variants...