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: rs1555100954
rs1555100954 		1.000 11 71118963 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 2010 2017
dbSNP: rs1555100954
rs1555100954 		1.000 11 71118963 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 12 2010 2017
dbSNP: rs117767473
rs117767473 		11 70480488 intron variant T/A snv 4.5E-03
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs12575685
rs12575685 		1.000 0.040 11 70671822 intron variant G/A snv 0.23
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs143737902
rs143737902 		11 70474318 non coding transcript exon variant C/G;T snv 1.4E-05
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs1562196
rs1562196 		1.000 0.040 11 70781137 intron variant G/C;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1565527302
rs1565527302 		1.000 0.040 11 70485988 frameshift variant TG/- del
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs35198051
rs35198051 		11 71134158 intron variant G/A snv
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs35198051
rs35198051 		11 71134158 intron variant G/A snv
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs35198051
rs35198051 		11 71134158 intron variant G/A snv
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.700 1.000 1 2012 2012
dbSNP: rs7117514
rs7117514 		1.000 0.040 11 70698832 intron variant A/G snv 0.36
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs7124728
rs7124728 		1.000 0.040 11 71165389 intron variant T/C snv 0.64
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs731616
rs731616 		1.000 0.040 11 70781054 intron variant C/T snv 0.72
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1555013332
rs1555013332 		0.882 0.160 11 70661635 frameshift variant -/T delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 0
dbSNP: rs1555013332
rs1555013332 		0.882 0.160 11 70661635 frameshift variant -/T delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555013332
rs1555013332 		0.882 0.160 11 70661635 frameshift variant -/T delins
CUI: C3150693
Disease: AUTISM, SUSCEPTIBILITY TO, 17
AUTISM, SUSCEPTIBILITY TO, 17 		0.700 0
dbSNP: rs1555013332
rs1555013332 		0.882 0.160 11 70661635 frameshift variant -/T delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs11236697
rs11236697 		1.000 0.040 11 70576391 intron variant T/C snv 4.4E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs188637286
rs188637286 		1.000 0.040 11 70698712 missense variant G/C;T snv 1.3E-05 4.9E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs61887413
rs61887413 		1.000 0.040 11 71194938 intron variant T/C snv 9.2E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs74336682
rs74336682 		1.000 0.040 11 70586855 intron variant A/G snv 5.6E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs76717360
rs76717360 		1.000 0.040 11 70525214 intron variant C/T snv 2.9E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs77716438
rs77716438 		1.000 0.040 11 71216711 intron variant G/A snv 1.8E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2018 2018