Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908340
rs121908340
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K 		G 0.800 CausalMutation CLINVAR
dbSNP: rs151173406
rs151173406
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267606651
rs267606651
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K 		C 0.800 CausalMutation CLINVAR
dbSNP: rs28939378
rs28939378
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs28939378
rs28939378
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K 		0.800 GeneticVariation UNIPROT
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0005697
Disease:
Neurogenic Urinary Bladder 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0262655
Disease:
Recurrent urinary tract infection 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0494475
Disease:
Tonic - clonic seizures 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0549629
Disease:
Abnormal delivery 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1963101
Disease:
Encephalopathy, CTCAE 3.0 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0015300
Disease:
Exophthalmos 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2712334
Disease:
Actual Aspiration 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C4023370
Disease:
Moderate intrauterine growth retardation 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C4048268
Disease:
Cortical visual impairment 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1854882
Disease:
Absent speech 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C4281993
Disease:
Neonatal respiratory distress 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1866195
Disease:
Downturned corners of mouth 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1860834
Disease:
Infantile muscular hypotonia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2267233
Disease:
Neonatal Hypotonia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0235991
Disease:
Small for gestational age (disorder) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C4072903
Disease:
Primary Caesarian section 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C4024736
Disease:
Abnormally lax or hyperextensible skin 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0036572
Disease:
Seizures 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2315100
Disease:
Pediatric failure to thrive 		G 0.700 GeneticVariation CLINVAR