Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936415
rs28936415
PMM2
A 0.710 CausalMutation CLINVAR

dbSNP: rs151173406
rs151173406
ALG1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569547876
rs1569547876
MAGT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs28939378
rs28939378
ALG1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs369160589
rs369160589
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs373260156
rs373260156
MAGT1
G 0.700 CausalMutation CLINVAR

dbSNP: rs374928784
rs374928784
ALG1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs398124348
rs398124348
ALG1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs398124349
rs398124349
ALG1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs398124401
rs398124401
SRD5A3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs746019074
rs746019074
ALG1
CTG 0.700 GeneticVariation CLINVAR

dbSNP: rs752307253
rs752307253
SRD5A3 ; SRD5A3-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs752922461
rs752922461
ALG1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs765191836
rs765191836
SRD5A3 ; SRD5A3-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs794726944
rs794726944
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs794727073
rs794727073
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs794727301
rs794727301
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs4630153
rs4630153
ALG6
0.020 GeneticVariation BEFREE A gene that causes one of the congenital disorders of glycosylation (CDG) has a mutation (911T-->C ) that changes a phenylalanine to serine at position 304 (F304S) of the alpha 1,3 glucosyl transferase. 11875054

2002
dbSNP: rs1276918786
rs1276918786
MPI
0.010 GeneticVariation BEFREE A gene that causes one of the congenital disorders of glycosylation (CDG) has a mutation (911T-->C ) that changes a phenylalanine to serine at position 304 (F304S) of the alpha 1,3 glucosyl transferase. 11875054

2002
dbSNP: rs4630153
rs4630153
ALG6
0.020 GeneticVariation BEFREE A gene that causes one of the congenital disorders of glycosylation (CDG) has a mutation (911T-->C ) that changes a phenylalanine to serine at position 304 (F304S) of the alpha 1,3 glucosyl transferase. 11875054

2002
dbSNP: rs373562040
rs373562040
SLC39A8
0.010 GeneticVariation BEFREE A second individual with the variants c.97G>A (p.Val33Met) and c.1004G>C (p.Ser335Thr) on the paternal allele and c.610G>T (p.Gly204Cys) on the maternal allele was identified among a group of unresolved case subjects with CDG. 26637979

2015
dbSNP: rs864309660
rs864309660
SLC39A8
0.010 GeneticVariation BEFREE A second individual with the variants c.97G>A (p.Val33Met) and c.1004G>C (p.Ser335Thr) on the paternal allele and c.610G>T (p.Gly204Cys) on the maternal allele was identified among a group of unresolved case subjects with CDG. 26637979

2015
dbSNP: rs779241085
rs779241085
SLC39A8
0.010 GeneticVariation BEFREE A second individual with the variants c.97G>A (p.Val33Met) and c.1004G>C (p.Ser335Thr) on the paternal allele and c.610G>T (p.Gly204Cys) on the maternal allele was identified among a group of unresolved case subjects with CDG. 26637979

2015
dbSNP: rs28939378
rs28939378
ALG1
T 0.700 CausalMutation CLINVAR ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 26931382

2016
dbSNP: rs587777116
rs587777116
DPM1 ; ADNP-AS1
0.010 GeneticVariation BEFREE Carbohydrate deficient transferrin testing showed a pattern pointing to a CDG type I. Sanger sequencing of DPM1 (dolichol-P-mannose synthase subunit 1) revealed a novel Gly > Val change c.455G > T missense mutation resulting in p.Gly152Val) of unknown pathogenicity and deletion/duplication analysis revealed an intragenic deletion from exons 3 to 7 on the other allele. 23856421

2013