Source: CURATED

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: rs1057519549
rs1057519549
GABRB3
0.925 0.040 15 26567655 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519549
rs1057519549
GABRB3
0.925 0.040 15 26567655 missense variant G/A snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 0
dbSNP: rs1057519550
rs1057519550
GABRB3
0.925 0.040 15 26621403 missense variant T/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519550
rs1057519550
GABRB3
0.925 0.040 15 26621403 missense variant T/G snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 0
dbSNP: rs1064794797
rs1064794797
GABRB3 ; LOC112268151
1.000 15 26772403 missense variant A/C;G snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 0
dbSNP: rs1064796514
rs1064796514
GABRB3
1.000 15 26567658 missense variant G/A;T snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 0
dbSNP: rs1555401942
rs1555401942
GABRB3
15 26567650 missense variant G/C snv
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs1567106381
rs1567106381
GABRB3
1.000 15 26561117 missense variant T/G snv
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1 		0.700 0
dbSNP: rs1567106381
rs1567106381
GABRB3
1.000 15 26561117 missense variant T/G snv
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs25409
rs25409
GABRB3 ; LOC112268151
0.882 0.080 15 26773694 missense variant G/A snv 2.9E-03 3.5E-03
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs71651682
rs71651682
GABRB3 ; LOC112268151
0.925 0.040 15 26772759 missense variant C/T snv
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs3212335
rs3212335
GABRB3 ; LOC112268151
1.000 0.080 15 26766994 intron variant C/T snv 0.32
CUI: C0023980
Disease: Longevity
Longevity 		0.800 1.000 1 2010 2010
dbSNP: rs11631129
rs11631129
GABRB3
15 26732026 intron variant G/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs12910337
rs12910337
GABRB3 ; LOC112268151
15 26748096 intron variant C/T snv 0.91
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3212332
rs3212332
GABRB3 ; LOC112268151
15 26768806 intron variant T/A snv 0.91
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3212343
rs3212343
GABRB3 ; LOC112268151
15 26764379 intron variant T/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4392030
rs4392030
GABRB3
15 26777184 intron variant G/C snv 0.89
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4632102
rs4632102
GABRB3
15 26789887 non coding transcript exon variant C/T snv 0.90
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4906898
rs4906898
GABRB3
15 26733600 intron variant A/C;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4906904
rs4906904
GABRB3
15 26788938 intron variant A/C;G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4906905
rs4906905
GABRB3
15 26789098 intron variant T/A snv 0.89
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4906906
rs4906906
GABRB3
15 26789376 intron variant A/C;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs6576604
rs6576604
GABRB3 ; LOC112268151
15 26750050 non coding transcript exon variant A/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs6576606
rs6576606
GABRB3 ; LOC112268151
15 26762437 intron variant A/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs6576611
rs6576611
GABRB3
15 26789146 intron variant T/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013