rs80338701, PMM2

N. diseases: 14
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.
Congenital disorder of glycosylation type 1A
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
80 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.820 1.000 17 1997 2013
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 1.000 12 1997 2017
Coloboma of optic disc
CUI: C0155299
Disease: Coloboma of optic disc
14 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
Hydrops Fetalis, Non-Immune
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
22 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
Pericardial effusion
CUI: C0031039
Disease: Pericardial effusion
10 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
Pleural effusion disorder
CUI: C0032227
Disease: Pleural effusion disorder
14 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
Ventricular hypertrophy
CUI: C0340279
Disease: Ventricular hypertrophy
9 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
Congenital esotropia
CUI: C0339619
Disease: Congenital esotropia
2 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.010 1.000 1 2003 2003