rs747481280, OPTN

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.
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
52 0.851 0.120 10 13132068 missense variant T/G snv 8.0E-06 0.700 1.000 1 2017 2017
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.851 0.120 10 13132068 missense variant T/G snv 8.0E-06 0.010 1.000 1 2018 2018
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.851 0.120 10 13132068 missense variant T/G snv 8.0E-06 0.010 1.000 1 2018 2018
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.851 0.120 10 13132068 missense variant T/G snv 8.0E-06 0.010 1.000 1 2018 2018