ACOT11, acyl-CoA thioesterase 11, 26027

N. diseases: 18; N. variants: 5
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: rs10736390
rs10736390
1 54638272 3 prime UTR variant A/G snv 0.49
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs11206397
rs11206397
1 54631395 intron variant A/T snv 0.31
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs11809810
rs11809810
1 54558033 intron variant A/G snv 6.0E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs17110757
rs17110757
1.000 0.040 1 54584133 intron variant G/A snv 0.20
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs17110757
rs17110757
1.000 0.040 1 54584133 intron variant G/A snv 0.20
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs373739034
rs373739034
1 54610465 frameshift variant CTCCACATTCAGACCGTCATCCCCAGGCA/- delins 1.9E-02 3.4E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018