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: rs121918608
rs121918608
1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05
S-adenosylhomocysteine hydrolase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 2004 2010
dbSNP: rs755222515
rs755222515
1.000 0.080 20 34294110 missense variant G/A snv 1.6E-05 2.1E-05
S-adenosylhomocysteine hydrolase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2004 2010
dbSNP: rs773162208
rs773162208
0.925 0.240 20 34294119 missense variant T/C snv 4.0E-05 2.8E-05
S-adenosylhomocysteine hydrolase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2004 2010
dbSNP: rs121918607
rs121918607
1.000 0.080 20 34292467 stop gained C/T snv
S-adenosylhomocysteine hydrolase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs369428934
rs369428934
0.925 0.240 20 34295469 missense variant G/A snv 2.8E-05 1.4E-05
S-adenosylhomocysteine hydrolase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0