rs1057516038, KIAA0586

N. diseases: 5
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.
Apnea
CUI: C0003578
Disease: Apnea
11 0.925 14 58444158 stop gained C/A;T snv 0.700 1.000 1 2016 2016
Episodic tachypnea
CUI: C3806218
Disease: Episodic tachypnea
1 0.925 14 58444158 stop gained C/A;T snv 0.700 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 14 58444158 stop gained C/A;T snv 0.700 1.000 1 2016 2016
JOUBERT SYNDROME 23
CUI: C4084822
Disease: JOUBERT SYNDROME 23
21 0.925 14 58444158 stop gained C/A;T snv 0.700 1.000 1 2016 2016
Molar tooth sign on MRI
CUI: C1865060
Disease: Molar tooth sign on MRI
7 0.925 14 58444158 stop gained C/A;T snv 0.700 1.000 1 2016 2016