RNPEP, arginyl aminopeptidase, 6051

N. diseases: 36; N. variants: 9
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: rs4950806
rs4950806
1 201983446 5 prime UTR variant T/C snv 0.58 0.60
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement
0.800 1.000 1 2011 2011
dbSNP: rs10800805
rs10800805
1 201990610 intron variant G/A;C snv
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement
0.700 1.000 1 2011 2011
dbSNP: rs11586632
rs11586632
1 201986486 intron variant G/A;T snv
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement
0.700 1.000 1 2011 2011
dbSNP: rs11590299
rs11590299
1 201984468 intron variant T/A snv 0.55
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement
0.700 1.000 1 2011 2011
dbSNP: rs144177292
rs144177292
1.000 0.040 1 201994931 intron variant C/T snv 2.8E-03
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator
0.700 1.000 1 2015 2015
dbSNP: rs144177292
rs144177292
1.000 0.040 1 201994931 intron variant C/T snv 2.8E-03
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4950752
rs4950752
1 201987299 intron variant G/A snv 0.54
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement
0.700 1.000 1 2011 2011
dbSNP: rs59698324
rs59698324
1 201996727 non coding transcript exon variant C/T snv 0.30
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs6689324
rs6689324
1 201985569 intron variant C/G;T snv
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement
0.700 1.000 1 2011 2011
dbSNP: rs7529387
rs7529387
1 201980910 upstream gene variant G/A snv 0.58
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement
0.700 1.000 1 2011 2011