rs1555939456, RPS6KA3

N. diseases: 21
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 rapid eye movement sleep
CUI: C0392188
Disease: Abnormal rapid eye movement sleep
1 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Abnormal upper to lower segment ratio
CUI: C4022728
Disease: Abnormal upper to lower segment ratio
1 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Abnormality of brainstem morphology
CUI: C1850601
Disease: Abnormality of brainstem morphology
2 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Abnormality of the clivus
CUI: C4023791
Disease: Abnormality of the clivus
1 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Abnormality of the occipital bone
CUI: C4022964
Disease: Abnormality of the occipital bone
1 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Coffin-Lowry syndrome
CUI: C0265252
Disease: Coffin-Lowry syndrome
25 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Increased head circumference
CUI: C4083076
Disease: Increased head circumference
1 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Joint laxity
CUI: C0086437
Disease: Joint laxity
15 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
17 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Oligomenorrhea
CUI: C0028949
Disease: Oligomenorrhea
1 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Psychotic Disorders
CUI: C0033975
Disease: Psychotic Disorders
179 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Short nose
CUI: C1854114
Disease: Short nose
23 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Tapering fingers (finding)
CUI: C0426886
Disease: Tapering fingers (finding)
19 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Thyroiditis
CUI: C0040147
Disease: Thyroiditis
7 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
Vitamin D Deficiency
CUI: C0042870
Disease: Vitamin D Deficiency
37 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0