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: rs118204044
rs118204044
0.925 0.080 2 149570089 missense variant A/G snv 2.4E-05
Homocystinuria, CblD Type, Variant 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs118204045
rs118204045
0.925 0.080 2 149575775 missense variant G/T snv 1.2E-05
Homocystinuria, CblD Type, Variant 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs118204046
rs118204046
0.925 0.080 2 149570119 missense variant T/C snv 7.2E-05 3.5E-05
Homocystinuria, CblD Type, Variant 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0