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: rs1057520918
rs1057520918 		0.790 0.160 19 13262780 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs1318353774
rs1318353774 		1.000 19 13298827 stop gained G/A;C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs1555756091
rs1555756091 		1.000 19 13298847 frameshift variant -/A ins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs886037945
rs886037945 		0.827 0.160 19 13303584 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs121908212
rs121908212 		0.732 0.160 19 13303877 missense variant G/A snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 1.000 8 1996 2017
dbSNP: rs1568457080
rs1568457080 		0.925 0.120 19 13245181 splice donor variant C/A snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 1.000 5 1999 2016
dbSNP: rs121908212
rs121908212 		0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.030 1.000 3 2002 2012
dbSNP: rs886037945
rs886037945 		0.827 0.160 19 13303584 missense variant C/T snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.800 1.000 3 2013 2016
dbSNP: rs121908217
rs121908217 		0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		0.020 1.000 2 2002 2012
dbSNP: rs121908247
rs121908247 		0.851 0.160 19 13235693 missense variant C/T snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 1.000 2 2006 2017
dbSNP: rs1568473233
rs1568473233 		0.925 0.120 19 13262790 stop gained G/A snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 1.000 2 2012 2012
dbSNP: rs886037944
rs886037944 		1.000 19 13455205 missense variant C/G snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.800 1.000 2 2016 2016
dbSNP: rs886037946
rs886037946 		1.000 19 13257421 missense variant C/A snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.800 1.000 2 2016 2016
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.710 1.000 1 2017 2017
dbSNP: rs121909323
rs121909323 		0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 1.000 1 2015 2015
dbSNP: rs1555737113
rs1555737113 		0.925 0.120 19 13231850 missense variant C/T snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 1.000 1 2016 2016
dbSNP: rs1568440440
rs1568440440 		0.925 0.120 19 13228767 stop gained GT/- delins
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 1.000 1 2016 2016
dbSNP: rs786200962
rs786200962 		0.827 0.120 19 13298768 frameshift variant A/- del
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2015 2015
dbSNP: rs786200962
rs786200962 		0.827 0.120 19 13298768 frameshift variant A/- del
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 1.000 1 2015 2015
dbSNP: rs786200963
rs786200963 		0.827 0.200 19 13371683 splice region variant C/T snv
CUI: C0424939
Disease: Learning difficulties
Learning difficulties 		0.700 1.000 1 2015 2015
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
Morphological abnormality of the central nervous system 		0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0