rs376754460, PMM2

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 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
Abnormality of the pinna
CUI: C0857379
Disease: Abnormality of the pinna
9 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
Congenital disorder of glycosylation type 1A
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
80 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
Motor retardation
CUI: C0424230
Disease: Motor retardation
8 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 0.700 0