rs387907145, ROGDI

N. diseases: 36
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.
Abnormal metabolic brain imaging by MRS
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
2 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Abnormality of pelvic girdle bone morphology
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
5 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Abnormality of the acetabulum
CUI: C4021739
Disease: Abnormality of the acetabulum
5 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Abnormality of the cerebral cortex
CUI: C4025701
Disease: Abnormality of the cerebral cortex
8 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Abnormality of the cerebral ventricles
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
5 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Abnormality of the hip joint
CUI: C4020870
Disease: Abnormality of the hip joint
2 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Abnormality of the subarachnoid space
CUI: C4022765
Disease: Abnormality of the subarachnoid space
4 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Cerebral white matter atrophy
CUI: C4022735
Disease: Cerebral white matter atrophy
11 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Cutaneous syndactyly between fingers 2 and 5
CUI: C4025165
Disease: Cutaneous syndactyly between fingers 2 and 5
2 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Distally placed thumb
CUI: C4024270
Disease: Distally placed thumb
2 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Kohlschutter Tonz syndrome
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
11 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Long palpebral fissure
CUI: C1849340
Disease: Long palpebral fissure
10 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
17 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Reduced brain N-acetyl aspartate level by MRS
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
8 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0