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.
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
Monocytosis
CUI: C0085702
Disease: Monocytosis
3 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
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
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
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
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 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
122 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
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
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
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
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
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
Sleep Apnea, Central
CUI: C0520680
Disease: Sleep Apnea, Central
17 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
105 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
74 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
Strabismus
CUI: C0038379
Disease: Strabismus
89 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