rs778127154, ALDH5A1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 0.700 1.000 6 1994 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 0.700 1.000 6 1994 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 0.700 1.000 6 1994 2016
succinic semialdehyde dehydrogenase deficiency
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
17 1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 0.700 0