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: rs121434487
rs121434487 		1.000 0.080 17 2670247 missense variant G/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 7 1997 2004
dbSNP: rs797045865
rs797045865 		0.925 0.080 17 2674088 frameshift variant GA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1997 2017
dbSNP: rs797045865
rs797045865 		0.925 0.080 17 2674088 frameshift variant GA/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 6 1997 2017
dbSNP: rs121434482
rs121434482 		1.000 0.080 17 2670209 missense variant A/G snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1997 2004
dbSNP: rs121434485
rs121434485 		1.000 0.080 17 2676553 missense variant G/C snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1997 2004
dbSNP: rs121434486
rs121434486 		1.000 0.080 17 2665431 missense variant T/C snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1997 2004
dbSNP: rs121434490
rs121434490 		1.000 0.080 17 2674218 missense variant A/C snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1997 2004
dbSNP: rs113994198
rs113994198 		0.925 0.080 17 2666053 frameshift variant A/-;AA delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 3 1999 2003
dbSNP: rs113994198
rs113994198 		0.925 0.080 17 2666053 frameshift variant A/-;AA delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 1999 2003
dbSNP: rs113994198
rs113994198 		0.925 0.080 17 2666053 frameshift variant A/-;AA delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 1999 2003
dbSNP: rs113994198
rs113994198 		0.925 0.080 17 2666053 frameshift variant A/-;AA delins
CUI: C0008519
Disease: Ectopic Tissue
Ectopic Tissue 		Pathological Conditions, Signs and Symptoms 0.700 1.000 3 1999 2003
dbSNP: rs121434484
rs121434484 		0.925 0.080 17 2670268 missense variant T/C snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 1999 2003
dbSNP: rs121434488
rs121434488 		0.925 0.080 17 2674110 missense variant G/A;C snv 4.0E-06
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 1999 2003
dbSNP: rs794729199
rs794729199 		1.000 0.080 17 2674206 missense variant G/A snv 7.0E-06
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 1997 2004
dbSNP: rs797045061
rs797045061 		1.000 0.080 17 2670286 stop gained A/T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2009 2016
dbSNP: rs121434488
rs121434488 		0.925 0.080 17 2674110 missense variant G/A;C snv 4.0E-06
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2003 2003
dbSNP: rs12938775
rs12938775 		1.000 0.040 17 2671527 intron variant G/A;T snv
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs12938775
rs12938775 		1.000 0.040 17 2671527 intron variant G/A;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs1320896171
rs1320896171 		0.882 0.120 17 2680294 missense variant C/T snv 7.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs1320896171
rs1320896171 		0.882 0.120 17 2680294 missense variant C/T snv 7.0E-06
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1320896171
rs1320896171 		0.882 0.120 17 2680294 missense variant C/T snv 7.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs140255439
rs140255439 		1.000 17 2638960 intron variant C/T snv 6.3E-02
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.700 1.000 1 2019 2019
dbSNP: rs4790348
rs4790348 		1.000 0.040 17 2650542 intron variant G/A snv 5.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs4790353
rs4790353 		1.000 0.040 17 2675354 intron variant G/T snv 0.79
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs7209748
rs7209748 		1.000 0.040 17 2635219 intron variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2017 2017