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: 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: 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
dbSNP: rs113994202
rs113994202 		1.000 0.080 17 2672645 intron variant T/C snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
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: rs121434483
rs121434483 		1.000 0.080 17 2674205 stop gained C/T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121434489
rs121434489 		0.925 0.080 17 2638310 stop gained C/T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121434489
rs121434489 		0.925 0.080 17 2638310 stop gained C/T snv
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1567559851
rs1567559851 		1.000 0.080 17 2674240 stop gained G/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs369259961
rs369259961 		1.000 0.080 17 2665423 stop gained T/C;G snv 4.0E-06
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784241
rs587784241 		1.000 0.080 17 2680272 stop gained C/T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784258
rs587784258 		1.000 0.080 17 2667064 stop gained C/T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784259
rs587784259 		1.000 0.080 17 2667103 stop gained -/A delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784262
rs587784262 		1.000 0.080 17 2665376 stop gained C/A;G;T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784266
rs587784266 		1.000 0.080 17 2670168 stop gained G/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784267
rs587784267 		1.000 0.080 17 2670193 stop gained C/T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784269
rs587784269 		1.000 0.080 17 2670223 stop gained C/T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784273
rs587784273 		1.000 0.080 17 2672718 stop gained C/G snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784276
rs587784276 		1.000 0.080 17 2672743 stop gained G/A;T snv 4.0E-06
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784278
rs587784278 		1.000 0.080 17 2672750 stop gained C/T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784282
rs587784282 		1.000 0.080 17 2674063 stop gained C/G;T snv 4.0E-06
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784285
rs587784285 		1.000 0.080 17 2665411 stop gained T/G snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0