rs397515415, HDAC8

N. diseases: 10
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.
CORNELIA DE LANGE SYNDROME 5
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
26 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 1.000 2 2012 2016
Accessory nipple
CUI: C0266011
Disease: Accessory nipple
3 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0
Anus, Imperforate
CUI: C0003466
Disease: Anus, Imperforate
9 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0
Arachnoid Cysts
CUI: C0078981
Disease: Arachnoid Cysts
6 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0
Atrioventricular Septal Defect
CUI: C1389018
Disease: Atrioventricular Septal Defect
19 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.240 X 72495216 stop gained G/A;T snv 0.700 0