Disease: Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia ×
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: rs281865564
rs281865564 		1.000 0.040 12 42464620 missense variant A/G snv
CUI: C2676254
Disease: Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		Nervous System Diseases 0.800 1.000 2 2008 2011
dbSNP: rs281865563
rs281865563 		1.000 0.040 12 42468783 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C2676254
Disease: Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		Nervous System Diseases 0.700 1.000 2 2008 2011
dbSNP: rs113994140
rs113994140 		1.000 0.040 12 42469523 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C2676254
Disease: Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		Nervous System Diseases 0.700 0