Disease: Classical Lissencephaly ×
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: 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: 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: rs1057520515
rs1057520515 		1.000 0.080 17 2680321 splice donor variant G/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
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: rs113994203
rs113994203 		1.000 0.080 17 2676607 splice donor variant G/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
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: rs1555526733
rs1555526733 		1.000 0.080 17 2670332 splice donor variant G/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
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: 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: rs200390886
rs200390886 		1.000 0.080 17 2670266 missense variant G/A;C 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: rs587784235
rs587784235 		1.000 0.080 17 2676611 splice region variant G/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784236
rs587784236 		1.000 0.080 17 2680170 missense variant C/G;T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784239
rs587784239 		1.000 0.080 17 2680225 missense variant G/A snv
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: rs587784242
rs587784242 		1.000 0.080 17 2680296 missense variant C/T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784243
rs587784243 		1.000 0.080 17 2680322 splice donor variant T/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0