Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1426039367
rs1426039367
CSF2
0.925 0.080 5 132073916 synonymous variant G/A snv 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.040 1.000 4 2001 2016
dbSNP: rs1426039367
rs1426039367
CSF2
0.925 0.080 5 132073916 synonymous variant G/A snv 7.0E-06
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		0.020 1.000 2 2001 2005
dbSNP: rs25882
rs25882
CSF2
0.925 0.080 5 132075767 missense variant T/C snv 0.26 0.26
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2007 2007
dbSNP: rs25882
rs25882
CSF2
0.925 0.080 5 132075767 missense variant T/C snv 0.26 0.26
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 1.000 1 2018 2018
dbSNP: rs747762300
rs747762300
CSF2
1.000 0.040 5 132074826 missense variant A/C snv 4.0E-06
CUI: C0024517
Disease: Major depression, single episode
Major depression, single episode 		0.010 1.000 1 2009 2009
dbSNP: rs753438778
rs753438778
CSF2
0.925 0.160 5 132074925 missense variant C/G;T snv 8.0E-06; 4.0E-06
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.010 1.000 1 2013 2013
dbSNP: rs753438778
rs753438778
CSF2
0.925 0.160 5 132074925 missense variant C/G;T snv 8.0E-06; 4.0E-06
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.010 1.000 1 2013 2013