Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894446
rs104894446
1.000 0.120 14 49622137 missense variant C/T snv
Congenital disorder of glycosylation type 2A
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 2 1996 2000
dbSNP: rs104894447
rs104894447
1.000 0.120 14 49622053 missense variant A/G snv
Congenital disorder of glycosylation type 2A
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 2 1996 2000
dbSNP: rs104894448
rs104894448
1.000 0.120 14 49622220 missense variant A/G snv
Congenital disorder of glycosylation type 2A
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 2 1996 2000
dbSNP: rs104894449
rs104894449
1.000 0.120 14 49622285 stop gained T/A snv
Congenital disorder of glycosylation type 2A
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1310787426
rs1310787426
1.000 0.120 14 49621359 stop gained C/T snv 4.1E-06 7.0E-06
Congenital disorder of glycosylation type 2A
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1566504935
rs1566504935
1.000 0.120 14 49622020 frameshift variant -/T delins
Congenital disorder of glycosylation type 2A
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1566505013
rs1566505013
1.000 0.120 14 49622067 missense variant G/C snv
Congenital disorder of glycosylation type 2A
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs730882218
rs730882218
0.925 0.120 14 49621979 missense variant G/C snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs730882218
rs730882218
0.925 0.120 14 49621979 missense variant G/C snv
Congenital disorder of glycosylation type 2A
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs730882218
rs730882218
0.925 0.120 14 49621979 missense variant G/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs776531113
rs776531113
1.000 0.120 14 49622388 missense variant C/T snv 4.0E-06 1.4E-05
Congenital disorder of glycosylation type 2A
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0