SYT2, synaptotagmin 2, 127833

N. diseases: 94; N. variants: 18
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: rs587777781
rs587777781 		0.925 0.120 1 202599351 missense variant T/G snv
CUI: C4015038
Disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC 		0.800 1.000 1 2014 2014
dbSNP: rs587777782
rs587777782 		0.925 0.040 1 202599348 missense variant G/A snv
CUI: C4015038
Disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC 		0.800 1.000 1 2014 2014
dbSNP: rs10920447
rs10920447 		1.000 0.040 1 202665535 intron variant T/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10920451
rs10920451 		1.000 0.040 1 202672162 intron variant C/T snv 0.53
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10920452
rs10920452 		1.000 0.040 1 202672212 intron variant G/A snv 0.53
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12021648
rs12021648 		1.000 0.040 1 202662789 intron variant G/A snv 1.6E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12038816
rs12038816 		1.000 0.040 1 202681497 intron variant A/C;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12404945
rs12404945 		1.000 0.040 1 202653174 intron variant C/T snv 0.13
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12404969
rs12404969 		1.000 0.040 1 202653298 intron variant C/T snv 0.36
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs141860749
rs141860749 		1.000 0.040 1 202668176 intron variant C/A snv 2.7E-04
CUI: C0423791
Disease: Maculopapular Lesion
Maculopapular Lesion 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs141860749
rs141860749 		1.000 0.040 1 202668176 intron variant C/A snv 2.7E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2095981
rs2095981 		1.000 0.040 1 202677135 intron variant G/T snv 0.57
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2153441
rs2153441 		1.000 0.040 1 202659448 intron variant T/C snv 0.46
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4950866
rs4950866 		1.000 0.040 1 202673879 intron variant A/G snv 0.53
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4950867
rs4950867 		1.000 0.040 1 202674080 intron variant G/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7517181
rs7517181 		1.000 0.040 1 202660617 intron variant T/C snv 0.47
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7550433
rs7550433 		1.000 0.040 1 202660596 intron variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs946857
rs946857 		1.000 0.040 1 202649545 intron variant G/A snv 0.37
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1057518805
rs1057518805 		1 202596928 inframe deletion ATAGTC/- delins
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057518805
rs1057518805 		1 202596928 inframe deletion ATAGTC/- delins
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587777781
rs587777781 		0.925 0.120 1 202599351 missense variant T/G snv
CUI: C0751950
Disease: Neuromuscular Junction Diseases
Neuromuscular Junction Diseases 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs587777781
rs587777781 		0.925 0.120 1 202599351 missense variant T/G snv
CUI: C0022972
Disease: Lambert-Eaton Myasthenic Syndrome
Lambert-Eaton Myasthenic Syndrome 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs587777782
rs587777782 		0.925 0.040 1 202599348 missense variant G/A snv
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		Nervous System Diseases 0.010 1.000 1 2014 2014