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: 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: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		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
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: 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: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		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: 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: 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: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		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: 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: C0580550
Disease: Lymphocyte count abnormal
Lymphocyte 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: 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: C3806688
Disease: Solute carrier family 35 member A2 congenital disorder of glycosylation
Solute carrier family 35 member A2 congenital disorder of glycosylation 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0342546
Disease: Premature adrenarche
Premature adrenarche 		0.700 1.000 1 2019 2019
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: C1527366
Disease: Salaam Seizures
Salaam Seizures 		0.700 1.000 1 2019 2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0085702
Disease: Monocytosis
Monocytosis 		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: C0302845
Disease: MCV - raised
MCV - raised 		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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019