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: rs1337415
rs1337415
6 101664650 intron variant A/G;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs1335022
rs1335022
1.000 0.080 6 102018522 intron variant C/T snv 0.27
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
Neoplasms; Stomatognathic Diseases 0.700 0
dbSNP: rs749995448
rs749995448
1.000 0.160 6 101676673 stop gained C/A;T snv 4.1E-06
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs2235076
rs2235076
0.925 0.080 6 102068385 missense variant G/A snv 1.8E-02 1.7E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.030 1.000 3 2006 2010
dbSNP: rs10485275
rs10485275
1.000 0.040 6 101718178 intron variant G/A;T snv
CUI: C4552766
Disease: Miscarriage
Miscarriage
Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs1417182
rs1417182
1.000 0.040 6 101885466 intron variant G/A snv 0.40
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder
Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs1556995
rs1556995
1.000 0.040 6 101869470 intron variant C/A;T snv
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder
Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs2227281
rs2227281
1.000 0.040 6 102055321 intron variant C/T snv 0.31 0.29
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs2227283
rs2227283
0.882 0.080 6 102055442 missense variant G/A;C;T snv 0.40; 4.0E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs2227283
rs2227283
0.882 0.080 6 102055442 missense variant G/A;C;T snv 0.40; 4.0E-06
CUI: C0014038
Disease: Encephalitis
Encephalitis
Nervous System Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs2227283
rs2227283
0.882 0.080 6 102055442 missense variant G/A;C;T snv 0.40; 4.0E-06
CUI: C0338831
Disease: Manic
Manic
Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs2235076
rs2235076
0.925 0.080 6 102068385 missense variant G/A snv 1.8E-02 1.7E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy
Nervous System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs2247215
rs2247215
1.000 0.120 6 101518578 intron variant A/G snv 0.26
CUI: C0015674
Disease: Chronic Fatigue Syndrome
Chronic Fatigue Syndrome
Infections; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2518344
rs2518344
6 101327270 intron variant A/G snv 0.62
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus
Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2579931
rs2579931
1.000 0.080 6 101406757 intron variant G/A;C;T snv
CUI: C0155880
Disease: Intrinsic asthma
Intrinsic asthma
Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3213607
rs3213607
0.925 0.080 6 102035481 synonymous variant C/A;T snv 6.5E-02; 2.0E-05
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs3213607
rs3213607
0.925 0.080 6 102035481 synonymous variant C/A;T snv 6.5E-02; 2.0E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy
Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4840200
rs4840200
1.000 0.040 6 101879428 intron variant T/C snv 7.8E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy
Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6570989
rs6570989
1.000 0.080 6 101509537 intron variant G/A snv 0.25
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs6922753
rs6922753
1.000 0.040 6 101799798 splice region variant T/C snv 0.25 0.26
CUI: C0338831
Disease: Manic
Manic
Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs9390754
rs9390754
1.000 0.040 6 101517038 intron variant A/G snv 0.20
CUI: C0014544
Disease: Epilepsy
Epilepsy
Nervous System Diseases 0.010 1.000 1 2019 2019