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: rs104893668
rs104893668 		1.000 0.040 2 85844542 stop gained G/A snv 2.4E-05 2.1E-05
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		Nervous System Diseases 0.700 1.000 3 2004 2013
dbSNP: rs878854615
rs878854615 		1.000 0.040 2 85888823 splice donor variant C/G snv 7.0E-06
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		Nervous System Diseases 0.700 1.000 3 2004 2016
dbSNP: rs57339844
rs57339844 		2 85891154 intron variant TTT/-;T;TT;TTTT delins
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs1553405319
rs1553405319 		1.000 0.040 2 85848044 missense variant G/T snv
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs1553405470
rs1553405470 		1.000 0.040 2 85848142 frameshift variant TGTCTTGGCAAAC/CA delins
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs534438354
rs534438354 		1.000 0.040 2 85840338 missense variant C/T snv 2.0E-05 1.3E-04
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs754643632
rs754643632 		1.000 0.040 2 85848170 frameshift variant T/- delins 7.2E-05 4.2E-05
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs771732955
rs771732955 		1.000 0.040 2 85847922 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs778265926
rs778265926 		1.000 0.040 2 85863421 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs886037930
rs886037930 		1.000 0.040 2 85847939 missense variant C/G;T snv
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		Nervous System Diseases 0.700 0