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: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2014 2018
dbSNP: rs162036
rs162036
0.827 0.200 5 7885846 missense variant A/G snv 0.18 0.21
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018