rs121908345, MLC1

N. diseases: 6
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.
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
46 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.800 1.000 10 2001 2013
Cyst
CUI: C0010709
Disease: Cyst
6 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.010 1.000 1 2018 2018
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
27 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.010 1.000 1 2018 2018
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.010 1.000 1 2018 2018
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.010 1.000 1 2018 2018
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.010 1.000 1 2018 2018