rs1557043622, SLC35A2

N. diseases: 46
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.
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Anteriorly placed anus
CUI: C1838705
Disease: Anteriorly placed anus
5 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Blue sclera
CUI: C0542514
Disease: Blue sclera
13 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Cerebellar vermis atrophy
CUI: C0742028
Disease: Cerebellar vermis atrophy
6 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Cerebral white matter atrophy
CUI: C4022735
Disease: Cerebral white matter atrophy
11 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Congenital overgrowth of lower limb
CUI: C0431928
Disease: Congenital overgrowth of lower limb
2 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Constipation
CUI: C0009806
Disease: Constipation
57 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Decreased CSF homovanillic acid
CUI: C4280803
Disease: Decreased CSF homovanillic acid
2 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Decreased peristalsis
CUI: C0232475
Disease: Decreased peristalsis
2 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Gastrointestinal dysmotility
CUI: C1836923
Disease: Gastrointestinal dysmotility
13 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Hematocrit increased
CUI: C0239935
Disease: Hematocrit increased
1 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Hyperopia
CUI: C0020490
Disease: Hyperopia
29 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Hypoalbuminemia
CUI: C0239981
Disease: Hypoalbuminemia
9 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Hypsarrhythmia
CUI: C0684276
Disease: Hypsarrhythmia
7 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Inappropriate crying
CUI: C0860609
Disease: Inappropriate crying
2 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Increased IgM level
CUI: C1839972
Disease: Increased IgM level
2 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Increased serum testosterone level
CUI: C4072885
Disease: Increased serum testosterone level
1 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Low alkaline phosphatase
CUI: C1860130
Disease: Low alkaline phosphatase
7 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Low posterior hairline
CUI: C1855728
Disease: Low posterior hairline
11 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019