VRK1, VRK serine/threonine kinase 1, 7443

N. diseases: 79; N. variants: 13
Disease: Spinal Muscular Atrophy ×
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: 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