rs1555350397, OTX2

N. diseases: 9
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.
Anxiety
CUI: C0003467
Disease: Anxiety
287 0.827 0.200 14 56804268 frameshift variant ACA/CC delins 0.700 0
Horizontal Nystagmus
CUI: C0271385
Disease: Horizontal Nystagmus
11 0.827 0.200 14 56804268 frameshift variant ACA/CC delins 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.827 0.200 14 56804268 frameshift variant ACA/CC delins 0.700 0
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.827 0.200 14 56804268 frameshift variant ACA/CC delins 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.827 0.200 14 56804268 frameshift variant ACA/CC delins 0.700 0
Orbital separation diminished
CUI: C0424711
Disease: Orbital separation diminished
11 0.827 0.200 14 56804268 frameshift variant ACA/CC delins 0.700 0
Phonophobia
CUI: C0751466
Disease: Phonophobia
1 0.827 0.200 14 56804268 frameshift variant ACA/CC delins 0.700 0
Pointed chin
CUI: C1844505
Disease: Pointed chin
13 0.827 0.200 14 56804268 frameshift variant ACA/CC delins 0.700 0
Protruding ear
CUI: C1855285
Disease: Protruding ear
6 0.827 0.200 14 56804268 frameshift variant ACA/CC delins 0.700 0