Source: BEFREE

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: rs1057518011
rs1057518011
TMEM240
1 1535766 missense variant C/T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 1.000 1 2019 2019
dbSNP: rs1057518011
rs1057518011
TMEM240
1 1535766 missense variant C/T snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 1.000 1 2019 2019
dbSNP: rs1057518011
rs1057518011
TMEM240
1 1535766 missense variant C/T snv
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.010 1.000 1 2019 2019
dbSNP: rs1057518011
rs1057518011
TMEM240
1 1535766 missense variant C/T snv
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		0.010 1.000 1 2019 2019