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: C0549629
Disease:
Abnormal delivery 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0549629
Disease:
Abnormal delivery 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs369160589
rs369160589
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: C4024736
Disease:
Abnormally lax or hyperextensible skin 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C4024736
Disease:
Abnormally lax or hyperextensible skin 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs369160589
rs369160589
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: C1854882
Disease:
Absent speech 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1854882
Disease:
Absent speech 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs369160589
rs369160589
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: C4317146
Disease:
Acid reflux 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C4317146
Disease:
Acid reflux 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs369160589
rs369160589
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: C2712334
Disease:
Actual Aspiration 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2712334
Disease:
Actual Aspiration 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs369160589
rs369160589
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: C1855650
Disease:
Birth length less than 3rd percentile 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555452127
rs1555452127
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1855650
Disease:
Birth length less than 3rd percentile 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs369160589
rs369160589
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1855650
Disease:
Birth length less than 3rd percentile 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs121908340
rs121908340
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K 		0.800 GeneticVariation UNIPROT Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. 14709599 2004
dbSNP: rs121908340
rs121908340
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K 		0.800 GeneticVariation UNIPROT Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. 14973782 2004
dbSNP: rs121908340
rs121908340
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K 		0.800 GeneticVariation UNIPROT Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. 14973778 2004
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: rs121908340
rs121908340
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K 		0.800 GeneticVariation UNIPROT ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 26931382 2016
dbSNP: rs151173406
rs151173406
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K 		0.800 GeneticVariation UNIPROT Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. 14709599 2004
dbSNP: rs151173406
rs151173406
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease:
Congenital disorder of glycosylation type 1K 		0.800 GeneticVariation UNIPROT Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. 14973782 2004