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: 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: C0349588
Disease: Short stature
Short stature 		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: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		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: 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: 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: 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: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		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: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		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: 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: C0580316
Disease: Neutrophil count abnormal
Neutrophil count abnormal 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		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: C0037317
Disease: Sleep disturbances
Sleep disturbances 		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
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: 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: 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: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0428282
Disease: Serum creatinine low
Serum creatinine low 		0.700 1.000 1 2019 2019