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: rs1553212626
rs1553212626 		1.000 1 151406151 frameshift variant -/A delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1999 2017
dbSNP: rs1553212626
rs1553212626 		1.000 1 151406151 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1999 2017
dbSNP: rs1553212626
rs1553212626 		1.000 1 151406151 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1999 2017
dbSNP: rs1553212978
rs1553212978 		1.000 1 151406322 frameshift variant -/T delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1999 2017
dbSNP: rs1553212978
rs1553212978 		1.000 1 151406322 frameshift variant -/T delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1999 2017
dbSNP: rs1553212978
rs1553212978 		1.000 1 151406322 frameshift variant -/T delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1999 2017
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: 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
dbSNP: rs1557870645
rs1557870645 		1.000 0.040 1 151407271 missense variant C/T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557874046
rs1557874046 		1.000 0.040 1 151408807 missense variant T/G snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1557901347
rs1557901347 		1.000 0.040 1 151424027 missense variant G/C snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0