rs1563183492, AUTS2

N. diseases: 32
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Apraxias
CUI: C0003635
Disease: Apraxias
9 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Astigmatism
CUI: C0004106
Disease: Astigmatism
45 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Congenital small ears
CUI: C0152423
Disease: Congenital small ears
13 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Fused Teeth
CUI: C0016873
Disease: Fused Teeth
1 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Hyperopia, High
CUI: C1855925
Disease: Hyperopia, High
1 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Hyperphagia
CUI: C0020505
Disease: Hyperphagia
3 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Knee joint valgus deformity
CUI: C0576093
Disease: Knee joint valgus deformity
5 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Maternal hypertension
CUI: C0565599
Disease: Maternal hypertension
22 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
8 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Oligodontia
CUI: C4082304
Disease: Oligodontia
34 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0