rs137853063, VRK1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
33 0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06 0.710 1.000 1 2016 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06 0.700 1.000 1 2015 2015
Pontocerebellar Hypoplasia Type 1
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
15 0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06 0.700 1.000 1 2013 2013
Distal Spinal Muscular Atrophy
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
8 0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06 0.010 1.000 1 2016 2016