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: rs4768412
rs4768412 		0.925 0.200 12 42475338 intron variant C/T snv 0.32
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.800 1.000 1 2012 2012
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: rs1551210
rs1551210 		12 42472072 intron variant C/T snv 0.34
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 2019
dbSNP: rs3213989
rs3213989 		1.000 0.080 12 42469999 non coding transcript exon variant G/A snv 0.33
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4768412
rs4768412 		0.925 0.200 12 42475338 intron variant C/T snv 0.32
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 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
dbSNP: rs762434475
rs762434475 		1.000 0.040 12 42465214 missense variant C/T snv 8.1E-06 1.4E-05
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.010 1.000 1 2018 2018