rs1554208945, ZNF292

N. diseases: 26
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.
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Alveolar ridge overgrowth
CUI: C1865598
Disease: Alveolar ridge overgrowth
1 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Clinodactyly of the 3rd toe
CUI: C4021555
Disease: Clinodactyly of the 3rd toe
1 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Clinodactyly of the 4th toe
CUI: C4020740
Disease: Clinodactyly of the 4th toe
4 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
17 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Micronychia (disorder)
CUI: C0263523
Disease: Micronychia (disorder)
5 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
20 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Overriding toe
CUI: C0920299
Disease: Overriding toe
13 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Progressive spastic quadriplegia
CUI: C1859736
Disease: Progressive spastic quadriplegia
2 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Salaam Seizures
CUI: C1527366
Disease: Salaam Seizures
9 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0