LIAS, lipoic acid synthetase, 11019

N. diseases: 43; N. variants: 10
Source: ALL
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: rs1057524792
rs1057524792
1.000 0.040 4 39467617 missense variant T/G snv
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs751866383
rs751866383
1.000 0.040 4 39470047 missense variant G/T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs866291718
rs866291718
1.000 0.040 4 39470042 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs961150638
rs961150638
1.000 0.040 4 39470038 missense variant G/C snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018