Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C4476567
Disease: Reduced brain choline level by MRS
Reduced brain choline level by MRS 		0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0277799
Disease: Intermittent fever
Intermittent fever 		0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0013132
Disease: Drooling
Drooling 		0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0014877
Disease: Esotropia
Esotropia 		0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0270820
Disease: Gelastic Epilepsy
Gelastic Epilepsy 		0.700 0