PON1, paraoxonase 1, 5444

N. diseases: 496; N. variants: 29
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: rs662
rs662
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 2008 2019
dbSNP: rs854560
rs854560
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2009 2015
dbSNP: rs2074351
rs2074351
1.000 0.080 7 95318487 non coding transcript exon variant G/A snv 0.26
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008