rs1555570093, MPDU1

N. diseases: 12
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 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
Cerebral cortical atrophy
CUI: C4551583
Disease: Cerebral cortical atrophy
13 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
6 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
Frontal lobe hypoplasia
CUI: C1849172
Disease: Frontal lobe hypoplasia
1 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
Ichthyoses
CUI: C0020757
Disease: Ichthyoses
18 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
Motor retardation
CUI: C0424230
Disease: Motor retardation
8 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
obsolete Hypopigmented fundi
CUI: C1856885
Disease: obsolete Hypopigmented fundi
1 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0