rs587777585, VARS2

N. diseases: 6
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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
6 0.882 6 30918851 missense variant C/G;T snv 2.4E-05 0.800 1.000 2 2014 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 6 30918851 missense variant C/G;T snv 2.4E-05 0.700 1.000 6 2011 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.882 6 30918851 missense variant C/G;T snv 2.4E-05 0.700 1.000 6 2011 2017
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.882 6 30918851 missense variant C/G;T snv 2.4E-05 0.010 1.000 1 2019 2019
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 6 30918851 missense variant C/G;T snv 2.4E-05 0.010 1.000 1 2019 2019
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.882 6 30918851 missense variant C/G;T snv 2.4E-05 0.010 1.000 1 2019 2019