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.
Broad forehead
CUI: C1849089
Disease: Broad forehead
13 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
Class III malocclusion
CUI: C0399526
Disease: Class III malocclusion
19 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
Highly arched eyebrow
CUI: C1868571
Disease: Highly arched eyebrow
14 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
Long face
CUI: C1836047
Disease: Long face
12 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
Narrow face
CUI: C1837463
Disease: Narrow face
6 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
Posteriorly rotated ear
CUI: C0431478
Disease: Posteriorly rotated ear
23 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
Prominent nasal bridge
CUI: C1854113
Disease: Prominent nasal bridge
8 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
Short philtrum
CUI: C1861324
Disease: Short philtrum
25 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0