rs1563183492, AUTS2

N. diseases: 32
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Astigmatism
CUI: C0004106
Disease: Astigmatism
0.700 GeneticVariation CLINVAR
Hyperphagia
CUI: C0020505
Disease: Hyperphagia
0.700 GeneticVariation CLINVAR
Hyperopia, High
CUI: C1855925
Disease: Hyperopia, High
0.700 GeneticVariation CLINVAR
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
0.700 GeneticVariation CLINVAR
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
0.700 GeneticVariation CLINVAR
Congenital small ears
CUI: C0152423
Disease: Congenital small ears
0.700 GeneticVariation CLINVAR
Small for gestational age (disorder)
0.700 GeneticVariation CLINVAR
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 GeneticVariation CLINVAR
Maternal hypertension
CUI: C0565599
Disease: Maternal hypertension
0.700 GeneticVariation CLINVAR
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
0.700 GeneticVariation CLINVAR
Esotropia
CUI: C0014877
Disease: Esotropia
0.700 GeneticVariation CLINVAR
Poor suck
CUI: C1837142
Disease: Poor suck
0.700 GeneticVariation CLINVAR
Apraxias
CUI: C0003635
Disease: Apraxias
0.700 GeneticVariation CLINVAR
Pyloric Stenosis
CUI: C0034194
Disease: Pyloric Stenosis
0.700 GeneticVariation CLINVAR
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 GeneticVariation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 GeneticVariation CLINVAR
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
0.700 GeneticVariation CLINVAR
Receptive language delay
CUI: C0454642
Disease: Receptive language delay
0.700 GeneticVariation CLINVAR
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
0.700 GeneticVariation CLINVAR
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
0.700 GeneticVariation CLINVAR
Syndactyly of the toes
CUI: C0265660
Disease: Syndactyly of the toes
0.700 GeneticVariation CLINVAR
Fused Teeth
CUI: C0016873
Disease: Fused Teeth
0.700 GeneticVariation CLINVAR
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
0.700 GeneticVariation CLINVAR