Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0542514
Disease: Blue sclera
Blue sclera 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0431928
Disease: Congenital overgrowth of lower limb
Congenital overgrowth of lower limb 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0009806
Disease: Constipation
Constipation 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0232475
Disease: Decreased peristalsis
Decreased peristalsis 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0014877
Disease: Esotropia
Esotropia 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0860609
Disease: Inappropriate crying
Inappropriate crying 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C1839972
Disease: Increased IgM level
Increased IgM level 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C4072885
Disease: Increased serum testosterone level
Increased serum testosterone level 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C1860130
Disease: Low alkaline phosphatase
Low alkaline phosphatase 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.700 1.000 1 2019 2019