ELOVL2, ELOVL fatty acid elongase 2, 54898

N. diseases: 26; N. variants: 41
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: rs1321536
rs1321536 		6 11018579 intron variant T/A;G snv
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs1323739
rs1323739 		6 11004328 intron variant C/G;T snv
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs17764592
rs17764592 		6 11002911 intron variant A/C;G snv
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs4532436
rs4532436 		6 10983738 3 prime UTR variant C/A;G;T snv 0.54; 5.0E-06
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs8523
rs8523 		6 10980820 3 prime UTR variant G/A;C snv
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs8523
rs8523 		6 10980820 3 prime UTR variant G/A;C snv
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		0.700 1.000 1 2015 2015
dbSNP: rs9295763
rs9295763 		6 11044959 non coding transcript exon variant G/A;C;T snv
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs953413
rs953413 		6 11012626 intron variant G/A;C snv
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs17675073
rs17675073 		6 11008416 intron variant G/A snv 0.11
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs12195587
rs12195587 		6 10989709 synonymous variant G/A snv 0.12 0.11
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs57997684
rs57997684 		1.000 6 11014323 intron variant A/C snv 0.13
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.700 1.000 1 2019 2019
dbSNP: rs17606561
rs17606561 		1.000 0.040 6 10982126 3 prime UTR variant G/A snv 0.17
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.800 1.000 2 2011 2012
dbSNP: rs17606561
rs17606561 		1.000 0.040 6 10982126 3 prime UTR variant G/A snv 0.17
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs2180725
rs2180725 		6 11025187 intron variant T/C snv 0.17
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs9393903
rs9393903 		6 11042676 intron variant G/A snv 0.18
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2011 2011
dbSNP: rs9393903
rs9393903 		6 11042676 intron variant G/A snv 0.18
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2011 2011
dbSNP: rs9393903
rs9393903 		6 11042676 intron variant G/A snv 0.18
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs3798719
rs3798719 		6 11036592 intron variant C/T snv 0.18
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs911196
rs911196 		6 10990518 intron variant T/G snv 0.18
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs3778166
rs3778166 		6 11032931 intron variant G/A snv 0.18
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs3798709
rs3798709 		6 11001043 intron variant A/G snv 0.18
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs3798710
rs3798710 		6 11002550 intron variant G/C snv 0.18
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs10498676
rs10498676 		0.925 0.040 6 11026766 intron variant G/A snv 0.18
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs10498676
rs10498676 		0.925 0.040 6 11026766 intron variant G/A snv 0.18
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs10498676
rs10498676 		0.925 0.040 6 11026766 intron variant G/A snv 0.18
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2018 2018