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: rs80338794
rs80338794
0.882 0.120 6 73644583 missense variant G/A snv 8.3E-04 4.8E-04
Infantile Sialic Acid Storage Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.730 0.667 3 1999 2005
dbSNP: rs794729653
rs794729653
0.925 0.120 6 73641807 frameshift variant T/- delins
Infantile Sialic Acid Storage Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 1999 2005
dbSNP: rs119491109
rs119491109
1.000 0.120 6 73638477 missense variant T/C snv 4.0E-06
Infantile Sialic Acid Storage Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs119491110
rs119491110
1.000 0.120 6 73615425 missense variant G/A;C snv
Infantile Sialic Acid Storage Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs201284672
rs201284672
0.925 0.120 6 73621864 stop gained A/C snv 8.4E-05 1.3E-04
Infantile Sialic Acid Storage Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338795
rs80338795
0.882 0.120 6 73641810 stop gained T/A;C snv 3.2E-05
Infantile Sialic Acid Storage Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0