EN2, engrailed homeobox 2, 2020

N. diseases: 41; N. variants: 8
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: rs1861972
rs1861972
0.925 0.040 7 155461298 intron variant G/A snv 0.72
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.070 1.000 7 2004 2010
dbSNP: rs1861972
rs1861972
0.925 0.040 7 155461298 intron variant G/A snv 0.72
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
Mental Disorders 0.060 1.000 6 2004 2014
dbSNP: rs1861973
rs1861973
0.925 0.040 7 155461450 intron variant T/C snv 0.73
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.060 1.000 6 2004 2010
dbSNP: rs1861973
rs1861973
0.925 0.040 7 155461450 intron variant T/C snv 0.73
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
Mental Disorders 0.040 1.000 4 2005 2014
dbSNP: rs3735653
rs3735653
0.925 0.040 7 155458738 missense variant C/G;T snv 0.54
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
Mental Disorders 0.020 1.000 2 2004 2010
dbSNP: rs1026306398
rs1026306398
1.000 0.040 7 155458802 missense variant C/A;G;T snv 3.0E-04; 7.6E-05
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1345514
rs1345514
1.000 0.040 7 155456455 intron variant C/T snv 0.29
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2361689
rs2361689
1.000 0.040 7 155462637 synonymous variant T/C snv 0.36 0.36
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs3735653
rs3735653
0.925 0.040 7 155458738 missense variant C/G;T snv 0.54
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs3808330
rs3808330
1.000 0.040 7 155463312 3 prime UTR variant T/C snv 0.23
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3824068
rs3824068
1.000 0.040 7 155460803 intron variant C/T snv 0.34
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.010 1.000 1 2008 2008