Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518708
rs1057518708
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
A 0.800 GeneticVariation CLINVAR
dbSNP: rs122445093
rs122445093
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
C 0.800 CausalMutation CLINVAR
dbSNP: rs122445094
rs122445094
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
G 0.800 CausalMutation CLINVAR
dbSNP: rs122445095
rs122445095
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
A 0.800 CausalMutation CLINVAR
dbSNP: rs122445096
rs122445096
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
A 0.800 CausalMutation CLINVAR
dbSNP: rs122445097
rs122445097
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
G 0.800 CausalMutation CLINVAR
dbSNP: rs122445098
rs122445098
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
C 0.800 CausalMutation CLINVAR
dbSNP: rs122445103
rs122445103
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
C 0.800 GeneticVariation CLINVAR
dbSNP: rs122445103
rs122445103
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
C 0.800 CausalMutation CLINVAR
dbSNP: rs122445104
rs122445104
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
T 0.800 CausalMutation CLINVAR
dbSNP: rs122445105
rs122445105
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
A 0.800 CausalMutation CLINVAR
dbSNP: rs122445106
rs122445106
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
A 0.800 CausalMutation CLINVAR
dbSNP: rs1057524153
rs1057524153
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1060499658
rs1060499658
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
T 0.700 CausalMutation CLINVAR
dbSNP: rs122445099
rs122445099
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
A 0.700 CausalMutation CLINVAR
dbSNP: rs122445100
rs122445100
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
A 0.700 CausalMutation CLINVAR
dbSNP: rs122445101
rs122445101
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
T 0.700 CausalMutation CLINVAR
dbSNP: rs122445108
rs122445108
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
A 0.700 CausalMutation CLINVAR
dbSNP: rs1557106482
rs1557106482
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
G 0.700 CausalMutation CLINVAR
dbSNP: rs1569515457
rs1569515457
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1569539477
rs1569539477
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
C 0.700 CausalMutation CLINVAR
dbSNP: rs398123425
rs398123425
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.700 GeneticVariation UNIPROT
dbSNP: rs1057518708
rs1057518708
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800 GeneticVariation UNIPROT Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). 7697714 1995
dbSNP: rs122445093
rs122445093
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800 GeneticVariation UNIPROT Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). 7697714 1995
dbSNP: rs122445094
rs122445094
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800 GeneticVariation UNIPROT Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). 7697714 1995