SHMT2 serine hydroxymethyltransferase 2

Genome build
GRCh37 / hg19
Ensembl gene ID
ENSG00000182199
References
gnomAD, Ensembl, UCSC Browser,
Other studies
ASC, BipEx, Epi25

Gene Result

ClassConsequenceCasesControlsOdds RatioCase/Control P-valueDe NovosDe Novo P-value
PTV4151.070.806
Missense (MPC ≥ 3)00
Missense (3 > MPC ≥ 2)00-

Meta-analysis P-value: 0.806

Meta-analysis Q-value: 1.00

Constraint

CategoryExp. SNVsObs. SNVsConstraint metrics
Synonymous121.5131Z = -0.68o/e = 1.08
Missense309.4234Z = 1.52o/e = 0.76
pLoF28.416pLI = 0o/e = 0.56
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