Source: CLINVAR

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: rs121909673
rs121909673
GABRG2
0.776 0.080 5 162093965 missense variant G/A snv
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0.800 1.000 8 2001 2015
dbSNP: rs1060501889
rs1060501889
GABRG2
0.925 0.080 5 162149210 frameshift variant G/- del
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0.700 1.000 3 2008 2015
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0.700 1.000 2 2017 2018
dbSNP: rs1057520498
rs1057520498
GABRG2
0.925 0.080 5 162095504 missense variant C/T snv 4.0E-06
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1060501888
rs1060501888
GABRG2
0.925 0.080 5 162149246 missense variant G/T snv
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1469287853
rs1469287853
GABRG2
0.925 0.080 5 162142211 stop gained G/C;T snv 7.0E-06
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1554098222
rs1554098222
GABRG2
0.925 0.080 5 162103931 frameshift variant CTGTT/- delins
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1554098226
rs1554098226
GABRG2
1.000 5 162103961 stop gained G/A snv
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1554101185
rs1554101185
GABRG2
0.925 0.080 5 162153091 splice acceptor variant A/G snv
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs878854144
rs878854144
GABRG2
0.925 0.080 5 162097840 frameshift variant G/- del
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0.700 0