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.
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
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
Lymphocyte count abnormal
CUI: C0580550
Disease: Lymphocyte count abnormal
1 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
MCV - raised
CUI: C0302845
Disease: MCV - raised
1 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Neutrophil count abnormal
CUI: C0580316
Disease: Neutrophil count abnormal
1 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
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
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
Retinal pigment epithelial mottling
CUI: C1857644
Disease: Retinal pigment epithelial mottling
2 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Serum creatinine low
CUI: C0428282
Disease: Serum creatinine low
2 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Monocytosis
CUI: C0085702
Disease: Monocytosis
3 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Pyloric Stenosis
CUI: C0034194
Disease: Pyloric Stenosis
4 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
Neutrophil count decreased
CUI: C0853697
Disease: Neutrophil count decreased
5 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
Hypsarrhythmia
CUI: C0684276
Disease: Hypsarrhythmia
7 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
Hypoalbuminemia
CUI: C0239981
Disease: Hypoalbuminemia
9 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
Salaam Seizures
CUI: C1527366
Disease: Salaam Seizures
9 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
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
Premature adrenarche
CUI: C0342546
Disease: Premature adrenarche
11 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
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