PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
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: rs28940285
rs28940285 		1.000 0.040 1 20645640 missense variant T/C snv 1.6E-05 3.5E-05
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.800 1.000 26 2004 2014
dbSNP: rs28940284
rs28940284 		1.000 0.040 1 20644526 missense variant C/A;T snv 4.0E-06
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.800 1.000 21 2004 2014
dbSNP: rs74315355
rs74315355 		0.790 0.080 1 20644639 missense variant G/A snv
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.800 1.000 21 2004 2014
dbSNP: rs74315358
rs74315358 		1.000 0.040 1 20644549 missense variant G/A snv 4.4E-05 7.7E-05
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.800 1.000 21 2004 2014
dbSNP: rs74315359
rs74315359 		0.882 0.040 1 20644651 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.800 1.000 21 2004 2014
dbSNP: rs74315360
rs74315360 		0.925 0.040 1 20638104 missense variant C/A snv
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.800 1.000 21 2004 2014
dbSNP: rs573931674
rs573931674 		1.000 0.040 1 20639934 missense variant G/A snv 4.0E-06
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.710 0.952 21 2004 2014
dbSNP: rs372280083
rs372280083 		1.000 0.040 1 20644515 missense variant C/G snv 9.5E-05 5.6E-05
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 1.000 20 2004 2014
dbSNP: rs556540177
rs556540177 		1.000 0.040 1 20648601 missense variant G/A;C;T snv 1.0E-04; 4.0E-06; 1.6E-05
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 1.000 20 2004 2014
dbSNP: rs764328076
rs764328076 		1.000 0.040 1 20649134 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 1.000 20 2004 2014
dbSNP: rs768091663
rs768091663 		1.000 0.040 1 20637956 missense variant G/C snv 2.0E-05
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 1.000 20 2004 2014
dbSNP: rs772510148
rs772510148 		1.000 0.040 1 20644551 missense variant G/A snv 4.4E-05 2.1E-05
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 1.000 20 2004 2014
dbSNP: rs775809722
rs775809722 		1.000 0.040 1 20633925 missense variant A/C;G snv 5.3E-06; 3.7E-05
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 1.000 20 2004 2014
dbSNP: rs34208370
rs34208370 		1.000 0.040 1 20649217 stop gained C/T snv 8.0E-05 4.2E-05
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 1.000 3 2004 2008
dbSNP: rs756783990
rs756783990 		1.000 0.040 1 20639990 stop gained C/A snv
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 1.000 3 2006 2012
dbSNP: rs138302371
rs138302371 		1.000 0.040 1 20638041 missense variant C/T snv 1.9E-04 1.7E-04
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs17414302
rs17414302 		1 20650042 non coding transcript exon variant G/A snv 5.6E-02
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs74315357
rs74315357 		1.000 0.040 1 20639952 stop gained C/A;T snv 5.2E-05; 2.8E-05
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 1.000 1 2004 2004
dbSNP: rs1195888869
rs1195888869 		1.000 0.040 1 20645706 missense variant T/C snv 4.0E-06
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 0
dbSNP: rs138050841
rs138050841 		0.925 0.040 1 20637894 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 0
dbSNP: rs1557561340
rs1557561340 		1.000 0.040 1 20638053 frameshift variant C/- del
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 0
dbSNP: rs371854396
rs371854396 		1.000 0.040 1 20638098 missense variant C/G;T snv 1.6E-05; 4.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.700 0
dbSNP: rs45539432
rs45539432 		0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 0
dbSNP: rs730880302
rs730880302 		1.000 0.040 1 20650512 frameshift variant -/TTAG delins
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 0
dbSNP: rs74315356
rs74315356 		0.925 0.040 1 20649054 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 0