rs1555740650, PRR12

N. diseases: 13
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.
Abnormality of vision
CUI: C4025846
Disease: Abnormality of vision
8 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
Coloboma of iris
CUI: C0240063
Disease: Coloboma of iris
12 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
Delayed speech and language development
192 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
Structural brain abnormalities
CUI: C1866933
Disease: Structural brain abnormalities
1 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0