Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587779768
rs587779768 		0.851 0.200 1 27549569 frameshift variant G/- delins
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2014 2014
dbSNP: rs1135401761
rs1135401761 		0.925 0.200 1 27548302 stop gained G/A;C snv
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1165205177
rs1165205177 		1.000 0.200 1 27550054 stop gained G/A;C snv 4.1E-06
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553158393
rs1553158393 		1.000 0.200 1 27548619 stop gained G/C snv
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553158517
rs1553158517 		1.000 0.200 1 27548947 stop gained CA/- delins
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553159383
rs1553159383 		1.000 0.200 1 27550597 stop gained T/A snv
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553159764
rs1553159764 		1.000 0.200 1 27551184 frameshift variant C/- delins
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553159979
rs1553159979 		1.000 0.200 1 27551566 frameshift variant C/- delins
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1557655967
rs1557655967 		1.000 0.200 1 27547746 missense variant T/C snv
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1557667078
rs1557667078 		1.000 0.200 1 27551119 frameshift variant C/- delins
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587779766
rs587779766 		0.851 0.200 1 27549742 frameshift variant CA/- delins
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587779767
rs587779767 		0.851 0.200 1 27549218 frameshift variant G/- delins
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886039900
rs886039900 		0.925 0.320 1 27549887 frameshift variant C/- delins
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0