Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555745467
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.700 0
dbSNP: rs1557644984
rs1557644984
SLC2A1
0.925 0.080 1 42927622 missense variant A/G snv
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.700 0
dbSNP: rs4647924
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.700 0
dbSNP: rs758946412
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.700 0
dbSNP: rs774843232
rs774843232
PGAP2
0.851 0.080 11 3825024 missense variant G/A;C;T snv 8.0E-06; 3.6E-05; 1.2E-05
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.700 0
dbSNP: rs121909673
rs121909673
GABRG2
0.776 0.080 5 162093965 missense variant G/A snv
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.010 1.000 1 2010 2010
dbSNP: rs41292285
rs41292285
CACNA1H
1.000 0.040 16 1208033 missense variant G/T snv 7.3E-03 7.1E-03
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.010 1.000 1 2016 2016
dbSNP: rs540638287
rs540638287
CACNA1H
1.000 0.040 16 1204313 missense variant C/T snv 4.3E-05 1.4E-05
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.010 1.000 1 2016 2016