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: rs1313319892
rs1313319892 		1.000 1 151406306 stop gained G/A;T snv 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1999 2017
dbSNP: rs1313319892
rs1313319892 		1.000 1 151406306 stop gained G/A;T snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1999 2017
dbSNP: rs1313319892
rs1313319892 		1.000 1 151406306 stop gained G/A;T snv 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1999 2017
dbSNP: rs1553212545
rs1553212545 		1.000 1 151406046 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1999 2017
dbSNP: rs1553212545
rs1553212545 		1.000 1 151406046 stop gained G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 13 1999 2017
dbSNP: rs1553212545
rs1553212545 		1.000 1 151406046 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1999 2017
dbSNP: rs864321674
rs864321674 		0.925 0.160 1 151406100 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1999 2017
dbSNP: rs864321673
rs864321673 		1.000 0.160 1 151428149 stop gained G/C snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2015 2016
dbSNP: rs864321674
rs864321674 		0.925 0.160 1 151406100 stop gained G/A snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2015 2016
dbSNP: rs1057519392
rs1057519392 		1.000 0.160 1 151412348 missense variant A/G snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057519392
rs1057519392 		1.000 0.160 1 151412348 missense variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1131692270
rs1131692270 		1.000 0.160 1 151412327 missense variant T/C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1131692270
rs1131692270 		1.000 0.160 1 151412327 missense variant T/C snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1135401798
rs1135401798 		1.000 0.160 1 151411741 stop gained C/A snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1276388879
rs1276388879 		1.000 0.040 1 151405647 missense variant A/C;G snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1372713010
rs1372713010 		1.000 0.040 1 151428041 missense variant G/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1418634444
rs1418634444 		1.000 0.040 1 151408777 missense variant T/C snv 7.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1452048149
rs1452048149 		1.000 0.040 1 151404828 missense variant C/T snv 4.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1476293577
rs1476293577 		1.000 0.040 1 151428188 missense variant G/A;C snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1484207450
rs1484207450 		1.000 0.040 1 151405155 missense variant A/G snv 7.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557863430
rs1557863430 		1.000 0.040 1 151405229 missense variant T/C snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557863440
rs1557863440 		1.000 0.040 1 151405233 missense variant T/C snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557863546
rs1557863546 		1.000 0.040 1 151405263 missense variant T/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557867134
rs1557867134 		1.000 0.160 1 151406229 stop gained C/A snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1557867853
rs1557867853 		1.000 0.040 1 151406330 missense variant G/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0