rs1555570110, MPDU1

N. diseases: 9
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.
Abnormal isoelectric focusing of serum transferrin
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
10 0.827 0.240 17 7586766 missense variant A/C snv 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.827 0.240 17 7586766 missense variant A/C snv 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.827 0.240 17 7586766 missense variant A/C snv 0.700 0
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
6 0.827 0.240 17 7586766 missense variant A/C snv 0.700 0
Deficiency of glucose-6-phosphate dehydrogenase
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
20 0.827 0.240 17 7586766 missense variant A/C snv 0.700 0
Motor retardation
CUI: C0424230
Disease: Motor retardation
8 0.827 0.240 17 7586766 missense variant A/C snv 0.700 0
Orbital separation diminished
CUI: C0424711
Disease: Orbital separation diminished
11 0.827 0.240 17 7586766 missense variant A/C snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.240 17 7586766 missense variant A/C snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.827 0.240 17 7586766 missense variant A/C snv 0.700 0