TRAK1, trafficking kinesin protein 1, 22906

N. diseases: 66; N. variants: 10
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: rs1553608726
rs1553608726 		3 42201037 frameshift variant AG/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 9 2003 2017
dbSNP: rs1046910
rs1046910 		1.000 0.040 3 42212172 3 prime UTR variant C/T snv 0.33
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs112912733
rs112912733 		3 42013418 upstream gene variant C/A snv 7.0E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs1868523
rs1868523 		1.000 0.040 3 42208144 intron variant G/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2290134
rs2290134 		1.000 0.040 3 42209771 synonymous variant C/T snv 0.53 0.50
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3733051
rs3733051 		1.000 0.040 3 42209079 intron variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs9311311
rs9311311 		1.000 0.040 3 42210782 3 prime UTR variant G/A snv 0.30
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1559390743
rs1559390743 		1.000 3 42209780 frameshift variant -/C delins
CUI: C4748688
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		0.700 0
dbSNP: rs1559877920
rs1559877920 		1.000 3 42176812 splice acceptor variant A/C;G snv
CUI: C4748688
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		0.700 0
dbSNP: rs770281448
rs770281448 		1.000 3 42194814 missense variant T/C snv 3.2E-05 7.0E-06
CUI: C4748688
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		0.700 0