Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1925690
rs1925690
ZNF292
1.000 0.080 6 87157345 intron variant T/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.800 1.000 1 2011 2011
dbSNP: rs9351120
rs9351120
ZNF292
6 87199610 intron variant T/C snv 0.13
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1135401779
rs1135401779
ZNF292
6 87256692 frameshift variant AAGA/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C1865598
Disease: Alveolar ridge overgrowth
Alveolar ridge overgrowth 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C4021555
Disease: Clinodactyly of the 3rd toe
Clinodactyly of the 3rd toe 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C1859736
Disease: Progressive spastic quadriplegia
Progressive spastic quadriplegia 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C4020740
Disease: Clinodactyly of the 4th toe
Clinodactyly of the 4th toe 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0