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Table 6 Odds ratios for comorbidities and birth characteristics of probands with potentially damaging SNV

From: Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder

Phenotypes WES probands
with pdSNV
ASC102 list
(n = 69)
WES probands
with pdSNV
ASC102 + DGR list
(n = 144)
OR 95% CI p value OR 95% CI p value
HC—large1 0.86 (0.53,5.02) 0.27 1.73 (0.67,3.97) 0.22
HC—small2 0.67 (0.20,1.73) 0.46 1.46 (0.76,2.64) 0.23
Large for gestational age3 0.83 (0.24,2.19) 0.73
Small for gestational age4 0.69 (0.20,1.79) 0.49
Congenital anomalies 0.57 (0.14,1.64) 0.36 0.80 (0.34,1.66) 0.58
Motor function disorders 0.51 (0.08,1.70) 0.36 0.99 (0.40,2.16) 0.99
Scholastic skill disorders 1.08 (0.52,2.05) 0.82 0.75 (0.41,1.28) 0.31
Speech/language disorders 0.77 (0.31,1.62) 0.52 0.95 (0.52,1.64) 0.85
ADHD 0.75 (0.37,1.41) 0.40 0.99 (0.61,1.57) 0.96
Anxiety disorder 0.55 (0.03,2.74) 0.56 0.56 (0.09,1.97) 0.44
Epilepsy 1.76 (1.06,2.89) 0.03* 1.51 (1.02,2.22) 0.03*
Intellectual disability 2.60 (1.55,4.48)  < 0.01* 2.62 (1.78,3.91)  < 0.01*
OCD 0.45 (0.11,1.27) 0.19 0.37 (0.13,0.85) 0.03*
Psychotic disorders 0.66 (0.20,1.66) 0.43 0.67 (0.29,1.37) 0.31
  1. ADHD attention-deficit/hyperactivity disorder, OCD obsessive–compulsive disorder, pdSNV potentially damaging single nucleotide variation
  2. 1HC-large if head circumference was > 38 cm. 2HC-small if head circumference was < 32 cm. 3Large for gestational age was defined as birth weight > 2 SD using the Swedish growth charts. 4Small for gestational age was defined as birth weight < 2 SD using Swedish growth charts. Missing values for congenital anomalies 260, large for gestational age 139, small for gestational age 139, HC-large 153, HC-small 153 individuals
  3. Significance level: *p < 0.05