Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C4551563
Disease:
Microcephaly (physical finding) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0036439
Disease:
Scoliosis, unspecified 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1837397
Disease:
Severe global developmental delay 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1386048
Disease:
Intrauterine retardation 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C4317146
Disease:
Acid reflux 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1837142
Disease:
Poor suck 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0342546
Disease:
Premature adrenarche 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1855650
Disease:
Birth length less than 3rd percentile 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0039231
Disease:
Tachycardia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0973461
Disease:
Dysphasia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1820737
Disease:
Temperature instability 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0751495
Disease:
Seizures, Focal 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2677180
Disease:
Congenital microcephaly 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1009298200
rs1009298200
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0426886
Disease:
Tapering fingers (finding) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1180515976
rs1180515976
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K 		0.700 GeneticVariation UNIPROT
dbSNP: rs151173406
rs151173406
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0282577
Disease:
Congenital Disorders of Glycosylation 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1386048
Disease:
Intrauterine retardation 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0039231
Disease:
Tachycardia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0494475
Disease:
Tonic - clonic seizures 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1820737
Disease:
Temperature instability 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0426886
Disease:
Tapering fingers (finding) 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0235991
Disease:
Small for gestational age (disorder) 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0005697
Disease:
Neurogenic Urinary Bladder 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C4281993
Disease:
Neonatal respiratory distress 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2267233
Disease:
Neonatal Hypotonia 		C 0.700 GeneticVariation CLINVAR