MAG, myelin associated glycoprotein, 4099

N. diseases: 106; N. variants: 9
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: rs2301600
rs2301600 		0.925 0.040 19 35295965 missense variant C/G;T snv 0.27
CUI: C4225250
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE 		0.800 1.000 3 2014 2016
dbSNP: rs587777229
rs587777229 		1.000 19 35309930 missense variant T/G snv
CUI: C4225250
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE 		0.800 1.000 3 2014 2016
dbSNP: rs762045079
rs762045079 		1.000 19 35295919 missense variant G/A;T snv 8.0E-06 7.0E-06
CUI: C4225250
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE 		0.700 1.000 3 2014 2016
dbSNP: rs771777424
rs771777424 		1.000 19 35299646 stop gained -/AGCTG delins 4.2E-06; 4.2E-06
CUI: C4225250
Disease: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs720308
rs720308 		1.000 0.040 19 35307157 intron variant A/G snv 0.13
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2005 2005
dbSNP: rs720309
rs720309 		1.000 0.040 19 35307013 intron variant T/A snv 0.13
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2005 2005
dbSNP: rs142375870
rs142375870 		0.925 0.080 19 35302594 missense variant A/C snv 2.3E-04 2.2E-04
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs142375870
rs142375870 		0.925 0.080 19 35302594 missense variant A/C snv 2.3E-04 2.2E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2019 2019
dbSNP: rs142375870
rs142375870 		0.925 0.080 19 35302594 missense variant A/C snv 2.3E-04 2.2E-04
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs144553163
rs144553163 		0.925 0.080 19 35299590 missense variant C/T snv 3.7E-03 3.9E-03
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs144553163
rs144553163 		0.925 0.080 19 35299590 missense variant C/T snv 3.7E-03 3.9E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs144553163
rs144553163 		0.925 0.080 19 35299590 missense variant C/T snv 3.7E-03 3.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2019 2019
dbSNP: rs2301600
rs2301600 		0.925 0.040 19 35295965 missense variant C/G;T snv 0.27
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs7249617
rs7249617 		1.000 0.040 19 35305081 intron variant C/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2011 2011