EPM2A, EPM2A glucan phosphatase, laforin, 7957

N. diseases: 87; N. variants: 20
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: rs137852917
rs137852917 		1.000 0.080 6 145627577 missense variant C/A;T snv 8.0E-06; 1.2E-05
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 15 1998 2015
dbSNP: rs104893955
rs104893955 		1.000 0.080 6 145735405 missense variant A/C;T snv
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 14 1998 2015
dbSNP: rs137852915
rs137852915 		1.000 0.080 6 145686276 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 14 1998 2015
dbSNP: rs104893950
rs104893950 		0.925 0.080 6 145627691 stop gained G/A;C snv 7.7E-05
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.720 1.000 3 2000 2014
dbSNP: rs1034706422
rs1034706422 		1.000 0.080 6 145735235 missense variant G/A;T snv 6.0E-06
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 14 1998 2015
dbSNP: rs1362231306
rs1362231306 		1.000 0.080 6 145735247 missense variant G/A;C snv 6.2E-06
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 14 1998 2015
dbSNP: rs137852916
rs137852916 		1.000 0.080 6 145635451 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 14 1998 2015
dbSNP: rs375544596
rs375544596 		1.000 0.080 6 145635382 missense variant G/A snv
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 14 1998 2015
dbSNP: rs104893950
rs104893950 		0.925 0.080 6 145627691 stop gained G/A;C snv 7.7E-05
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		Nervous System Diseases 0.700 1.000 3 1998 2014
dbSNP: rs1396644
rs1396644 		1.000 0.080 6 145407178 intron variant G/A snv 5.2E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs1554263366
rs1554263366 		1.000 0.040 6 145686284 missense variant T/C snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs781291421
rs781291421 		1.000 0.040 6 145635468 stop gained C/A;T snv 1.2E-05; 2.8E-05
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		Nervous System Diseases 0.700 1.000 1 2004 2004
dbSNP: rs80133860
rs80133860 		6 145673722 intron variant G/A;T snv
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs587776553
rs587776553 		1.000 0.080 6 145686262 stop gained -/T delins
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587776554
rs587776554 		1.000 0.080 6 145627458 frameshift variant -/A delins
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs796052427
rs796052427 		1.000 0.080 6 145627534 missense variant T/A snv
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs796052428
rs796052428 		1.000 0.080 6 145627510 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1415744
rs1415744 		1.000 0.040 6 145701395 intron variant T/C snv 0.54
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs201053542
rs201053542 		1.000 0.080 6 145627618 missense variant T/C snv 4.0E-06
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2235481
rs2235481 		1.000 0.040 6 145735712 5 prime UTR variant T/C snv 0.73
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs702304
rs702304 		1.000 0.040 6 145669661 intron variant T/C snv 0.62
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2016 2016