VRK1, VRK serine/threonine kinase 1, 7443

N. diseases: 79; N. variants: 13
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: rs137853063
rs137853063 		0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.710 1.000 1 2016 2016
dbSNP: rs137853063
rs137853063 		0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2015 2015
dbSNP: rs137853063
rs137853063 		0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs371295780
rs371295780 		1.000 0.080 14 96847326 missense variant A/G snv 2.8E-05 2.8E-05
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs772731615
rs772731615 		1.000 0.080 14 96860628 missense variant C/T snv 2.0E-04
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs773138218
rs773138218 		1.000 0.080 14 96846144 missense variant G/A;C snv 3.2E-05
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1566696845
rs1566696845 		1.000 14 96833625 splice donor variant TCTTGGTA/- delins
CUI: C3553449
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B 		0.700 0
dbSNP: rs1566713184
rs1566713184 		1.000 0.080 14 96860643 stop gained C/T snv
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs771364038
rs771364038 		1.000 0.080 14 96855353 missense variant G/A;T snv 2.4E-05; 4.0E-06
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs772263867
rs772263867 		1.000 0.080 14 96846143 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs779282547
rs779282547 		1.000 0.080 14 96856576 frameshift variant AAAC/- delins 8.0E-06 7.0E-06
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs780789145
rs780789145 		1.000 0.080 14 96833477 frameshift variant T/- del 4.0E-06 7.0E-06
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs137853063
rs137853063 		0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs184887106
rs184887106 		1.000 0.040 14 96876085 stop gained G/A snv 1.6E-05
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs779770049
rs779770049 		1.000 0.040 14 96855230 missense variant T/G snv 8.0E-06
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs868010710
rs868010710 		0.851 0.080 14 96833502 missense variant A/G snv
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs868010710
rs868010710 		0.851 0.080 14 96833502 missense variant A/G snv
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs868010710
rs868010710 		0.851 0.080 14 96833502 missense variant A/G snv
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		0.010 1.000 1 2014 2014
dbSNP: rs868010710
rs868010710 		0.851 0.080 14 96833502 missense variant A/G snv
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018