rs1555741826, PRR12

N. diseases: 16
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.
Abnormal vision
CUI: C3665386
Disease: Abnormal vision
6 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Abnormality of vision
CUI: C4025846
Disease: Abnormality of vision
8 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Coloboma of iris
CUI: C0240063
Disease: Coloboma of iris
12 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Distichiasis
CUI: C0423848
Disease: Distichiasis
2 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Stellate iris
CUI: C4022727
Disease: Stellate iris
1 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
Winged scapula
CUI: C0240953
Disease: Winged scapula
3 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0