Gene: GFAP ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909720
rs121909720
GFAP
T 0.800 CausalMutation CLINVAR

dbSNP: rs1057518685
rs1057518685
GFAP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1567773470
rs1567773470
GFAP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs59793293
rs59793293
GFAP
A 0.820 CausalMutation CLINVAR A retractable, multi-view gas delivery apparatus. 1250985

1976
dbSNP: rs267607516
rs267607516
GFAP
G 0.800 CausalMutation CLINVAR Early parental touch and preterm infants. 1941292

1991
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. 11567214

2001
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. 11138011

2001
dbSNP: rs121909717
rs121909717
GFAP
A 0.830 CausalMutation CLINVAR Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. 11138011

2001
dbSNP: rs59565950
rs59565950
GFAP
T 0.820 CausalMutation CLINVAR Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. 11567214

2001
dbSNP: rs59565950
rs59565950
GFAP
T 0.820 CausalMutation CLINVAR Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. 11138011

2001
dbSNP: rs59793293
rs59793293
GFAP
A 0.820 CausalMutation CLINVAR Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. 11138011

2001
dbSNP: rs59285727
rs59285727
GFAP
T 0.810 CausalMutation CLINVAR Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. 11567214

2001
dbSNP: rs59285727
rs59285727
GFAP
T 0.810 CausalMutation CLINVAR Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. 11138011

2001
dbSNP: rs61497286
rs61497286
GFAP
A 0.810 CausalMutation CLINVAR Here we report that a 10-year-old Japanese patient who showed clinical signs of Alexander disease is heterozygous for a C to T transition in which predicts a novel A244V amino acid substitution in the conserved 2A alpha-helix domain of GFAP. 11595337

2001
dbSNP: rs57120761
rs57120761
GFAP
A 0.800 CausalMutation CLINVAR Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. 11567214

2001
dbSNP: rs58732244
rs58732244
GFAP
A 0.800 CausalMutation CLINVAR Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. 11567214

2001
dbSNP: rs61622935
rs61622935
GFAP
A 0.800 CausalMutation CLINVAR Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. 11567214

2001
dbSNP: rs61622935
rs61622935
GFAP
T 0.800 CausalMutation CLINVAR Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. 11567214

2001
dbSNP: rs61726468
rs61726468
GFAP
G 0.800 CausalMutation CLINVAR Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. 11138011

2001
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. 12034785

2002
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients. 12368989

2002
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR He was a heterozygote of the Arg239Cys mutation of the glial fibrillary acidic protein gene and was diagnosed with Alexander's disease. 12026242

2002
dbSNP: rs121909717
rs121909717
GFAP
A 0.830 CausalMutation CLINVAR Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. 12034785

2002
dbSNP: rs59565950
rs59565950
GFAP
G 0.820 CausalMutation CLINVAR Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients. 12368989

2002
dbSNP: rs59793293
rs59793293
GFAP
C 0.820 CausalMutation CLINVAR Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. 12034785

2002