rs1557781252, GATAD2B

N. diseases: 33
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Monocular strabismus
CUI: C4023678
Disease: Monocular strabismus
2 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Small pituitary gland
CUI: C4022873
Disease: Small pituitary gland
4 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Anisocoria
CUI: C0003079
Disease: Anisocoria
5 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Macrocephaly at birth
CUI: C1836599
Disease: Macrocephaly at birth
6 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Chronic diarrhea
CUI: C0401151
Disease: Chronic diarrhea
9 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Microstomia
CUI: C0026034
Disease: Microstomia
9 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Induced vaginal delivery
CUI: C4072908
Disease: Induced vaginal delivery
10 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Smooth philtrum
CUI: C1142533
Disease: Smooth philtrum
10 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Fecal Incontinence
CUI: C0015732
Disease: Fecal Incontinence
12 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Neonatal hypoglycemia
CUI: C0158986
Disease: Neonatal hypoglycemia
13 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Delayed bone age
CUI: C0541764
Disease: Delayed bone age
14 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Urinary Incontinence
CUI: C0042024
Disease: Urinary Incontinence
14 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
CUI: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
15 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Myopathic facies
CUI: C0332615
Disease: Myopathic facies
15 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Vitamin D Deficiency
CUI: C0042870
Disease: Vitamin D Deficiency
37 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0