rs1057518799, POGZ

N. diseases: 7
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.
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
Short metacarpal
CUI: C1837084
Disease: Short metacarpal
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
Truncal obesity
CUI: C4551560
Disease: Truncal obesity
4 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0