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.
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
16 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Abnormal palate morphology
CUI: C4021815
Disease: Abnormal palate morphology
2 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Anisocoria
CUI: C0003079
Disease: Anisocoria
5 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Borderline intellectual disability
CUI: C0006009
Disease: Borderline intellectual disability
3 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Childhood-onset truncal obesity
CUI: C1859846
Disease: Childhood-onset truncal obesity
4 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Finger joint hypermobility
CUI: C0574974
Disease: Finger joint hypermobility
2 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Hyperextensibility at elbow
CUI: C4023808
Disease: Hyperextensibility at elbow
7 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Hyperextensibility of the finger joints
CUI: C1844577
Disease: Hyperextensibility of the finger joints
5 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Knee joint valgus deformity
CUI: C0576093
Disease: Knee joint valgus deformity
5 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Lordosis
CUI: C0024003
Disease: Lordosis
15 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Lower thoracic kyphosis
CUI: C1864361
Disease: Lower thoracic kyphosis
1 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Macrotia
CUI: C0152421
Disease: Macrotia
18 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
33 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Mental Retardation, Autosomal Dominant 5
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
64 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Narrow nasal bridge
CUI: C4551564
Disease: Narrow nasal bridge
2 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Orthostatic tachycardia
CUI: C4021099
Disease: Orthostatic tachycardia
1 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Posteriorly rotated ear
CUI: C0431478
Disease: Posteriorly rotated ear
23 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Severe myopia
CUI: C0271183
Disease: Severe myopia
116 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
Short 5th metacarpal
CUI: C1861388
Disease: Short 5th metacarpal
3 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0