Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037938
rs886037938
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
T 0.800 CausalMutation CLINVAR
dbSNP: rs886037939
rs886037939
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
A 0.800 CausalMutation CLINVAR
dbSNP: rs886037940
rs886037940
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
T 0.800 CausalMutation CLINVAR
dbSNP: rs886037941
rs886037941
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
T 0.800 CausalMutation CLINVAR
dbSNP: rs1057519549
rs1057519549
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.700 GeneticVariation UNIPROT
dbSNP: rs1057519549
rs1057519549
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0543888
Disease:
Epileptic encephalopathy
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519550
rs1057519550
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0543888
Disease:
Epileptic encephalopathy
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519550
rs1057519550
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.700 GeneticVariation UNIPROT
dbSNP: rs1064794797
rs1064794797
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1064796514
rs1064796514
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555401942
rs1555401942
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1567106381
rs1567106381
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C1838604
Disease:
EPILEPSY, CHILDHOOD ABSENCE, 1
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1567106381
rs1567106381
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
G 0.700 GeneticVariation CLINVAR
dbSNP: rs25409
rs25409
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs71651682
rs71651682
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.700 GeneticVariation UNIPROT
dbSNP: rs11631129
rs11631129
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs12910337
rs12910337
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs3212332
rs3212332
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs3212343
rs3212343
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs4392030
rs4392030
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs4632102
rs4632102
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs4906898
rs4906898
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs4906904
rs4906904
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs4906905
rs4906905
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs4906906
rs4906906
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013