Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6313
rs6313
HTR2A
0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		0.010 1.000 1 2001 2001
dbSNP: rs6313
rs6313
HTR2A
0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.020 1.000 2 2000 2007
dbSNP: rs6313
rs6313
HTR2A
0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.040 0.500 4 2001 2013
dbSNP: rs6311
rs6311
HTR2A
0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.010 1.000 1 2019 2019
dbSNP: rs6313
rs6313
HTR2A
0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.010 1.000 1 2019 2019
dbSNP: rs6313
rs6313
HTR2A
0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 0.917 12 2003 2019
dbSNP: rs6311
rs6311
HTR2A
0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2019 2019
dbSNP: rs75634836
rs75634836
HTR2A
0.807 0.160 13 46835532 missense variant C/A;T snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2013 2013
dbSNP: rs6311
rs6311
HTR2A
0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0002622
Disease: Amnesia
Amnesia 		0.010 1.000 1 2015 2015
dbSNP: rs6311
rs6311
HTR2A
0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 1.000 1 2017 2017
dbSNP: rs6311
rs6311
HTR2A
0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 1.000 1 2017 2017
dbSNP: rs7997012
rs7997012
HTR2A
0.807 0.080 13 46837850 intron variant A/G snv 0.69
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 1.000 1 2013 2013
dbSNP: rs6313
rs6313
HTR2A
0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0085632
Disease: Apathy
Apathy 		0.010 1.000 1 2017 2017
dbSNP: rs1923886
rs1923886
HTR2A
13 46849156 intron variant C/T snv 0.64
CUI: C0239377
Disease: Arm Pain
Arm Pain 		0.010 1.000 1 2019 2019
dbSNP: rs7330636
rs7330636
HTR2A
13 46849457 intron variant C/T snv 0.42
CUI: C0239377
Disease: Arm Pain
Arm Pain 		0.010 1.000 1 2019 2019
dbSNP: rs6313
rs6313
HTR2A
0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		0.010 1.000 1 2018 2018
dbSNP: rs6313
rs6313
HTR2A
0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.030 1.000 3 2000 2005
dbSNP: rs6314
rs6314
HTR2A
0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.030 0.667 3 2000 2007
dbSNP: rs6311
rs6311
HTR2A
0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.010 1.000 1 2013 2013
dbSNP: rs6311
rs6311
HTR2A
0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.020 1.000 2 2014 2014
dbSNP: rs6314
rs6314
HTR2A
0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.020 1.000 2 2014 2014
dbSNP: rs6311
rs6311
HTR2A
0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 < 0.001 1 2016 2016
dbSNP: rs6313
rs6313
HTR2A
0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2002 2002
dbSNP: rs6314
rs6314
HTR2A
0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2002 2002
dbSNP: rs6313
rs6313
HTR2A
0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0270327
Disease: Bedwetting
Bedwetting 		0.010 1.000 1 2010 2010