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: rs1555526718
rs1555526718 		1.000 0.080 17 2670276 frameshift variant -/A delins
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: rs797045861
rs797045861 		1.000 0.080 17 2670201 frameshift variant -/A delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045864
rs797045864 		1.000 0.080 17 2672750 frameshift variant -/A delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045857
rs797045857 		1.000 0.080 17 2666087 splice region variant -/AAGGTAAC delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045866
rs797045866 		1.000 0.080 17 2665408 frameshift variant -/AT delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045867
rs797045867 		1.000 0.080 17 2674112 frameshift variant -/ATCAA delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045870
rs797045870 		1.000 0.080 17 2674216 frameshift variant -/C delins 4.0E-06
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045858
rs797045858 		1.000 0.080 17 2667084 frameshift variant -/CC delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045872
rs797045872 		1.000 0.080 17 2676536 frameshift variant -/G delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784284
rs587784284 		1.000 0.080 17 2674103 frameshift variant -/T delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045855
rs797045855 		1.000 0.080 17 2680178 frameshift variant -/T delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045859
rs797045859 		1.000 0.080 17 2667142 frameshift variant -/T delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784238
rs587784238 		1.000 0.080 17 2680224 frameshift variant A/- del
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784240
rs587784240 		1.000 0.080 17 2680261 frameshift variant A/- del
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
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: 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: rs587784251
rs587784251 		1.000 0.080 17 2681802 stop lost A/C snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784287
rs587784287 		1.000 0.080 17 2674139 missense variant A/C snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
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: rs1555527149
rs1555527149 		1.000 0.080 17 2674287 missense variant A/G snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784279
rs587784279 		1.000 0.080 17 2672761 splice region variant A/G snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0