Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 ×
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: rs119454947
rs119454947 		16 1195503 missense variant C/A;G;T snv 8.8E-06; 2.2E-05
CUI: C2749872
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 		0.800 0
dbSNP: rs119454948
rs119454948 		16 1200296 stop gained G/A;T snv 1.7E-05 7.0E-06
CUI: C2749872
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 		0.800 0
dbSNP: rs119454949
rs119454949 		16 1205153 missense variant G/A snv 1.2E-05 2.8E-05
CUI: C2749872
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 		0.800 0
dbSNP: rs1288484976
rs1288484976 		16 1202393 missense variant C/T snv 7.0E-06
CUI: C2749872
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 		0.700 1.000 3 2003 2018
dbSNP: rs373764821
rs373764821 		16 1204238 missense variant G/A snv 2.5E-05 1.4E-05
CUI: C2749872
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 		0.700 1.000 3 2003 2018
dbSNP: rs542245543
rs542245543 		16 1211517 missense variant G/A snv 1.8E-04 7.7E-05
CUI: C2749872
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 		0.700 1.000 3 2003 2018
dbSNP: rs560915333
rs560915333 		16 1201945 missense variant G/A snv 1.8E-03 3.8E-04
CUI: C2749872
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 		0.700 1.000 3 2003 2018
dbSNP: rs770371468
rs770371468 		16 1204250 missense variant C/T snv 6.3E-05 2.1E-05
CUI: C2749872
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 		0.700 1.000 3 2003 2018
dbSNP: rs142306293
rs142306293 		16 1204271 missense variant G/A snv 2.5E-04 3.1E-04
CUI: C2749872
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2004 2004
dbSNP: rs60734921
rs60734921 		16 1202303 missense variant C/T snv 5.4E-04 4.5E-04
CUI: C2749872
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2004 2004
dbSNP: rs267606697
rs267606697 		0.925 0.040 16 1204325 missense variant G/A snv 2.4E-04 4.2E-05
CUI: C2749872
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 		0.700 0
dbSNP: rs374272094
rs374272094 		16 1205204 missense variant G/A snv 7.6E-05 1.7E-04
CUI: C2749872
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 		0.700 0
dbSNP: rs779526640
rs779526640 		16 1204357 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C2749872
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 		0.700 0