rs150299874, L2HGDH

N. diseases: 5
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.
Ataxia, Appendicular
CUI: C0750937
Disease: Ataxia, Appendicular
5 1.000 0.120 14 50302901 splice donor variant C/T snv 1.2E-05 7.0E-06 0.700 0
Headache
CUI: C0018681
Disease: Headache
75 1.000 0.120 14 50302901 splice donor variant C/T snv 1.2E-05 7.0E-06 0.700 0
L-2-HYDROXYGLUTARIC ACIDURIA
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
16 1.000 0.120 14 50302901 splice donor variant C/T snv 1.2E-05 7.0E-06 0.700 0
Postural instability
CUI: C1843921
Disease: Postural instability
5 1.000 0.120 14 50302901 splice donor variant C/T snv 1.2E-05 7.0E-06 0.700 0
Spastic gait
CUI: C0231687
Disease: Spastic gait
9 1.000 0.120 14 50302901 splice donor variant C/T snv 1.2E-05 7.0E-06 0.700 0