Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499655
rs1060499655
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
T 0.700 CausalMutation CLINVAR
dbSNP: rs1064792999
rs1064792999
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
T 0.700 CausalMutation CLINVAR
dbSNP: rs1085307108
rs1085307108
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
C 0.700 CausalMutation CLINVAR
dbSNP: rs1135401770
rs1135401770
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
T 0.700 CausalMutation CLINVAR
dbSNP: rs1135401770
rs1135401770
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C1843367
Disease:
Poor school performance
T 0.700 CausalMutation CLINVAR
dbSNP: rs1553270599
rs1553270599
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553270634
rs1553270634
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
T 0.700 CausalMutation CLINVAR
dbSNP: rs1553270640
rs1553270640
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1558149913
rs1558149913
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
A 0.700 CausalMutation CLINVAR
dbSNP: rs398122406
rs398122406
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
T 0.700 CausalMutation CLINVAR
dbSNP: rs750922282
rs750922282
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
T 0.700 CausalMutation CLINVAR
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
G 0.700 CausalMutation CLINVAR
dbSNP: rs869312689
rs869312689
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026351
Disease:
Moderate intellectual disability
C 0.700 GeneticVariation CLINVAR
dbSNP: rs869312689
rs869312689
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C4551563
Disease:
Microcephaly (physical finding)
C 0.700 GeneticVariation CLINVAR
dbSNP: rs869312689
rs869312689
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0424503
Disease:
Dysmorphic facies
C 0.700 GeneticVariation CLINVAR
dbSNP: rs869312689
rs869312689
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
C 0.700 GeneticVariation CLINVAR
dbSNP: rs869312689
rs869312689
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0454644
Disease:
Delayed speech and language development
C 0.700 GeneticVariation CLINVAR
dbSNP: rs875989786
rs875989786
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
T 0.700 CausalMutation CLINVAR
dbSNP: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0432072
Disease:
Dysmorphic features
T 0.700 GeneticVariation CLINVAR C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. 9568537 1997
dbSNP: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026650
Disease:
Movement Disorders
T 0.700 GeneticVariation CLINVAR C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. 9568537 1997
dbSNP: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026827
Disease:
Muscle hypotonia
T 0.700 GeneticVariation CLINVAR C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. 9568537 1997
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026827
Disease:
Muscle hypotonia
G 0.700 GeneticVariation CLINVAR C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. 9568537 1997
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease:
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. 9568537 1997
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0432072
Disease:
Dysmorphic features
G 0.700 GeneticVariation CLINVAR C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. 9568537 1997
dbSNP: rs875989786
rs875989786
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026650
Disease:
Movement Disorders
T 0.700 GeneticVariation CLINVAR C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. 9568537 1997