Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs281875309
rs281875309
MLC1
1.000 0.200 22 50083145 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		0.810 1.000 1 2001 2012
dbSNP: rs80358245
rs80358245
MLC1
1.000 0.200 22 50080387 missense variant G/A snv 1.7E-05 7.0E-06
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		0.810 1.000 1 2001 2012
dbSNP: rs764669598
rs764669598
MLC1
1.000 0.200 22 50068503 missense variant G/T snv 4.0E-06
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		0.710 1.000 1 2006 2017
dbSNP: rs80358240
rs80358240
MLC1
0.851 0.160 22 50064168 missense variant G/T snv 7.0E-06
CUI: C0543918
Disease: SCHIZOPHRENIA 10
SCHIZOPHRENIA 10 		0.030 1.000 3 2001 2003
dbSNP: rs80358240
rs80358240
MLC1
0.851 0.160 22 50064168 missense variant G/T snv 7.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.020 0.500 2 2002 2002
dbSNP: rs121908345
rs121908345
MLC1
0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2018 2018
dbSNP: rs121908345
rs121908345
MLC1
0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.010 1.000 1 2018 2018
dbSNP: rs121908345
rs121908345
MLC1
0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.010 1.000 1 2018 2018
dbSNP: rs121908345
rs121908345
MLC1
0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05
CUI: C0010709
Disease: Cyst
Cyst 		0.010 1.000 1 2018 2018
dbSNP: rs121908345
rs121908345
MLC1
0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 2018 2018
dbSNP: rs2076137
rs2076137
MLC1
0.807 0.080 22 50077337 intron variant C/T snv 0.14
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		0.010 1.000 1 2005 2005
dbSNP: rs2076137
rs2076137
MLC1
0.807 0.080 22 50077337 intron variant C/T snv 0.14
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1 		0.010 1.000 1 2005 2005
dbSNP: rs2076137
rs2076137
MLC1
0.807 0.080 22 50077337 intron variant C/T snv 0.14
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2005 2005
dbSNP: rs2076137
rs2076137
MLC1
0.807 0.080 22 50077337 intron variant C/T snv 0.14
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2005 2005
dbSNP: rs2076137
rs2076137
MLC1
0.807 0.080 22 50077337 intron variant C/T snv 0.14
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4 		0.010 1.000 1 2005 2005
dbSNP: rs2076137
rs2076137
MLC1
0.807 0.080 22 50077337 intron variant C/T snv 0.14
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6 		0.010 1.000 1 2005 2005
dbSNP: rs2235349
rs2235349
MLC1
0.807 0.080 22 50079810 intron variant T/C snv 0.22
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2005 2005
dbSNP: rs2235349
rs2235349
MLC1
0.807 0.080 22 50079810 intron variant T/C snv 0.22
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2005 2005
dbSNP: rs2235349
rs2235349
MLC1
0.807 0.080 22 50079810 intron variant T/C snv 0.22
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1 		0.010 1.000 1 2005 2005
dbSNP: rs2235349
rs2235349
MLC1
0.807 0.080 22 50079810 intron variant T/C snv 0.22
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		0.010 1.000 1 2005 2005
dbSNP: rs2235349
rs2235349
MLC1
0.807 0.080 22 50079810 intron variant T/C snv 0.22
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6 		0.010 1.000 1 2005 2005
dbSNP: rs2235349
rs2235349
MLC1
0.807 0.080 22 50079810 intron variant T/C snv 0.22
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4 		0.010 1.000 1 2005 2005
dbSNP: rs80358240
rs80358240
MLC1
0.851 0.160 22 50064168 missense variant G/T snv 7.0E-06
CUI: C0036344
Disease: Schizophrenia, Catatonic
Schizophrenia, Catatonic 		0.010 1.000 1 2004 2004
dbSNP: rs80358240
rs80358240
MLC1
0.851 0.160 22 50064168 missense variant G/T snv 7.0E-06
CUI: C0007398
Disease: Catatonia
Catatonia 		0.010 1.000 1 2004 2004