rs1557043622, SLC35A2

N. diseases: 46
Source: CLINVAR ×
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.
Solute carrier family 35 member A2 congenital disorder of glycosylation
CUI: C3806688
Disease: Solute carrier family 35 member A2 congenital disorder of glycosylation
12 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
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
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
15 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Hyperopia
CUI: C0020490
Disease: Hyperopia
17 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
20 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
22 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Osteopenia
CUI: C0029453
Disease: Osteopenia
23 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Sleep Apnea, Obstructive
CUI: C0520679
Disease: Sleep Apnea, Obstructive
23 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
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
27 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Esotropia
CUI: C0014877
Disease: Esotropia
38 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
41 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Constipation
CUI: C0009806
Disease: Constipation
49 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
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
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
66 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Strabismus
CUI: C0038379
Disease: Strabismus
85 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
118 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Short stature
CUI: C0349588
Disease: Short stature
292 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
505 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019